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<!--
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||
UID=6984
|
||
ConceptID=C0020625
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hyponatremia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6984</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020625</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome; Finding; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Hyponatremias</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hyponatremia (89627008)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002902">HP:0002902</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/613508" target="_blank">613508</a></td></tr>
|
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">An abnormally decreased sodium concentration in the blood. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=6984" target="_blank" href="/omim/613508">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Hyponatremia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/233128" ref="tree=MeSH" title="MedGen record for Abnormal Blood Chemistry and Hematology Test Result">Abnormal Blood Chemistry and Hematology Test Result</a></span><ul><li><span class="matched_ds">Hyponatremia</span><ul><li><span class="TLline"><a href="/medgen/1789288" ref="tree=MeSH" title="MedGen record for Hyponatremia with Hypoosmolality">Hyponatremia with Hypoosmolality</a></span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_1324"><div><strong>Primary adrenocortical insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1324</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0001403</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1324">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78631"><div><strong>Congenital secretory diarrhea, chloride type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78631</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0267662</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital secretory chloride diarrhea is an autosomal recessive form of severe chronic diarrhea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis. The electrolyte disorder resembles the renal disorder Bartter syndrome (see 607364), except that chloride diarrhea is not associated with calcium level abnormalities (summary by Choi et al., 2009). Genetic Heterogeneity of Diarrhea Other forms of diarrhea include DIAR2 (251850), caused by mutation in the MYO5B gene (606540) on 18q21; DIAR3 (270420), caused by mutation in the SPINT2 gene (605124) on 19q13; DIAR4 (610370), caused by mutation in the NEUROG3 gene (604882) on 10q21; DIAR5 (613217), caused by mutation in the EPCAM gene (185535) on 2p21; DIAR6 (614616), caused by mutation in the GUCY2C gene (601330) on 12p12; DIAR7 (615863) caused by mutation in the DGAT1 gene (604900) on 8q24; DIAR8 (616868), caused by mutation in the SLC9A3 gene (182307) on 5p15; DIAR9 (618168), caused by mutation in the WNT2B gene (601968) on 1p13; DIAR10 (618183), caused by mutation in the PLVAP gene (607647) on 19p13; DIAR11 (618662), caused by deletion of the intestine critical region (ICR) on 16p13, resulting in loss of expression of the flanking gene PERCC1 (618656); DIAR12 (619445), caused by mutation in the STX3 gene (600876) on 11q12; and DIAR13 (620357), caused by mutation in the ACSL5 gene (605677) on 10q25.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78631">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82784"><div><strong>Corticosterone 18-monooxygenase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82784</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268293</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CMO type I deficiency is an autosomal recessive disorder caused by a defect in the penultimate biochemical step of aldosterone biosynthesis, the 18-hydroxylation of corticosterone (B) to 18-hydroxycorticosterone (18-OHB). This enzymatic defect results in decreased aldosterone and salt-wasting. In CMO I deficiency, aldosterone is undetectable, whereas its immediate precursor, 18-OHB, is low or normal. These patients have an increased ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998). The CYP11B2 gene product also catalyzes the final step in aldosterone biosynthesis: the 18-oxidation of 18-OHB to aldosterone. A defect in that enzymatic step results in CMO type II deficiency (610600), an allelic disorder with an overlapping phenotype but distinct biochemical features. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB. These patients have a low ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82784">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_452446"><div><strong>3 beta-Hydroxysteroid dehydrogenase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>452446</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0342471</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic 3-beta-hydroxysteroid dehydrogenase deficiency is an autosomal recessive form of CAH characterized by a severe impairment of steroid biosynthesis in both the adrenals and the gonads, resulting in decreased excretion of cortisol and aldosterone and of progesterone, androgens, and estrogens by these tissues. Affected newborns exhibit signs and symptoms of glucocorticoid and mineralocorticoid deficiencies, which may be fatal if not diagnosed and treated early, especially in the severe salt-wasting form. Moreover, male newborns exhibit pseudohermaphroditism with incomplete masculinization of the external genitalia due to an impairment of androgen biosynthesis in the testis. In contrast, affected females exhibit normal sexual differentiation or partial virilization (summary by Rheaume et al., 1992).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/452446">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_87442"><div><strong>Congenital adrenal hypoplasia, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87442</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0342482</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">NR0B1-related adrenal hypoplasia congenita includes both X-linked adrenal hypoplasia congenita (X-linked AHC) and Xp21 deletion (previously called complex glycerol kinase deficiency). X-linked AHC is characterized by primary adrenal insufficiency and/or hypogonadotropic hypogonadism (HH). Adrenal insufficiency is acute infantile onset (average age 3 weeks) in approximately 60% of affected males and childhood onset (ages 1-9 years) in approximately 40%. HH typically manifests in a male with adrenal insufficiency as delayed puberty (i.e., onset age >14 years) and less commonly as arrested puberty at about Tanner Stage 3. Rarely, X-linked AHC manifests initially in early adulthood as delayed-onset adrenal insufficiency, partial HH, and/or infertility. Heterozygous females very occasionally have manifestations of adrenal insufficiency or hypogonadotropic hypogonadism. Xp21 deletion includes deletion of NR0B1 (causing X-linked AHC) and GK (causing glycerol kinase deficiency), and in some cases deletion of DMD (causing Duchenne muscular dystrophy). Developmental delay has been reported in males with Xp21 deletion when the deletion extends proximally to include DMD or when larger deletions extend distally to include IL1RAPL1 and DMD.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87442">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_260623"><div><strong>Autosomal dominant pseudohypoaldosteronism type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>260623</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1449842</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant pseudohypoaldosteronism type I (PHA1A) is characterized by salt wasting resulting from renal unresponsiveness to mineralocorticoids. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. This observation suggests that only those infants whose salt homeostasis is stressed by intercurrent illness and volume depletion develop clinically recognized PHA I (summary by Geller et al., 1998). Autosomal recessive pseudohypoaldosteronism type I (see PHA1B1, 264350), caused by mutation in any one of 3 genes encoding the epithelial sodium channel (ENaC), is a similar but more severe systemic disorder with persistence into adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/260623">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_332474"><div><strong>AICA-ribosiduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332474</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1837530</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">AICA-ribosiduria is characterized by severe to profound global neurodevelopmental impairment, severe visual impairment due to chorioretinal atrophy, ante-postnatal growth impairment, and severe scoliosis. Dysmorphic features include coarse facies and upturned nose. Early-onset epilepsy may occur. Less common features may include aortic coarctation, chronic hepatic cytolysis, minor genital malformations, and nephrocalcinosis (Ramond et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332474">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333560"><div><strong>Isolated hyperchlorhidrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333560</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1840437</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Isolated hyperchlorhidrosis (HYCHL) is an autosomal recessive condition in which excessive salt wasting in sweat can result in severe infantile hyponatremic dehydration and hyperkalemia (summary by Muhammad et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333560">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336877"><div><strong>Nephrogenic syndrome of inappropriate antidiuresis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336877</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1845202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a common cause of hyponatremia. The syndrome manifests as an inability to excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolality, and natriuresis. SIADH occurs in a setting of normal blood volume, without evidence of renal disease or deficiency of thyroxine or cortisol. Although usually transient, SIADH may be chronic; it is often associated with drug use or a lesion in the central nervous system or lung. When the cardinal features of SIADH were defined by Bartter and Schwartz (1967), levels of AVP could not be measured. Subsequently, radioimmunoassays revealed that SIADH is usually associated with measurably elevated serum levels of AVP. Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is characterized by a clinical picture similar to SIADH, but is associated with undetectable levels of AVP (Feldman et al., 2005).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336877">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400366"><div><strong>Familial hemophagocytic lymphohistiocytosis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400366</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1863727</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG; 147570) and TNF-alpha (191160), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by Dufourcq-Lagelouse et al., 1999, Stepp et al., 1999, and Molleran Lee et al., 2004). For a general phenotypic description and a discussion of genetic heterogeneity of FHL, see 267700.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400366">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355842"><div><strong>Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355842</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1864840</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355842">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355430"><div><strong>Bartter disease type 4A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355430</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1865270</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997). Patients with antenatal (or neonatal) forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, 607364) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355430">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419735"><div><strong>Nephropathic cystinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419735</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2931187</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419735">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_461449"><div><strong>Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461449</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3150099</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis with a broad phenotypic spectrum including cortisol deficiency, altered sex steroid synthesis, disorders of sex development (DSD), and skeletal malformations of the Antley-Bixler syndrome (ABS) phenotype. Cortisol deficiency is usually partial, with some baseline cortisol production but failure to mount an adequate cortisol response in stress. Mild mineralocorticoid excess can be present and causes arterial hypertension, usually presenting in young adulthood. Manifestations of altered sex steroid synthesis include ambiguous genitalia/DSD in both males and females, large ovarian cysts in females, poor masculinization and delayed puberty in males, and maternal virilization during pregnancy with an affected fetus. Skeletal malformations can manifest as craniosynostosis, mid-face retrusion with proptosis and choanal stenosis or atresia, low-set dysplastic ears with stenotic external auditory canals, hydrocephalus, radiohumeral synostosis, neonatal fractures, congenital bowing of the long bones, joint contractures, arachnodactyly, and clubfeet; other anomalies observed include urinary tract anomalies (renal pelvic dilatation, vesicoureteral reflux). Cognitive impairment is of minor concern and likely associated with the severity of malformations; studies of developmental outcomes are lacking.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/461449">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462559"><div><strong>Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462559</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3151209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">HUPRA syndrome is a severe autosomal recessive multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely (summary by Belostotsky et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462559">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_483046"><div><strong>Corticosterone methyloxidase type 2 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483046</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3463917</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CMO type II deficiency is an autosomal recessive disorder caused by a defect in the final biochemical step of aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone (18-OHB) to aldosterone. This enzymatic defect results in decreased aldosterone and salt-wasting associated with an increased serum ratio of 18-OHB to aldosterone. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB. These patients have a low ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998). The CYP11B2 gene product also catalyzes an earlier step in aldosterone biosynthesis: the 18-hydroxylation of corticosterone to 18-OHB. A defect in that enzymatic step results in CMO type I deficiency (204300), an allelic disorder with an overlapping phenotype but distinct biochemical features. In CMO I deficiency, aldosterone is undetectable, whereas its immediate precursor, 18-OHB, is low or normal (Portrat-Doyen et al., 1998).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/483046">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766501"><div><strong>Glucocorticoid deficiency 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766501</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3553587</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial glucocorticoid deficiency (GCCD) is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by Meimaridou et al., 2012). For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766501">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_924576"><div><strong>MIRAGE syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924576</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4284088</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MIRAGE syndrome is an acronym for the major findings of myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. Cytopenias are typically seen soon after birth; thrombocytopenia is the most common followed by anemia and pancytopenia. Recurrent infections from early infancy include pneumonia, urinary tract infection, gastroenteritis, meningitis, otitis media, dermatitis, subcutaneous abscess, and sepsis. Reported genital phenotypes in those with 46,XY karyotype included hypospadias, microphallus, bifid shawl scrotum, ambiguous genitalia, or complete female genitalia. Hypoplastic or dysgenetic ovaries have been reported in females. Gastrointestinal complications include chronic diarrhea and esophageal dysfunction. Moderate-to-severe developmental delay is reported in most affected individuals. Autonomic dysfunction and renal dysfunction are also reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/924576">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934772"><div><strong>Bartter disease type 4B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934772</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310805</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997). Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, 601678) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934772">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934787"><div><strong>Bartter disease type 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934787</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310820</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Antenatal Bartter syndrome is a potentially life-threatening disease characterized by fetal polyuria, polyhydramnios, prematurity, and postnatal polyuria with persistent renal salt wasting. In transient antenatal Bartter syndrome-5, the onset of polyhydramnios and labor occur several weeks earlier than in other forms of Bartter syndrome. Polyuria lasts from a few days to 6 weeks, ending around 30 to 33 weeks of gestational age. Other features in the neonatal period include hypercalciuria, causing nephrocalcinosis in some cases, as well as hyponatremia, hypokalemia, and elevated renin and aldosterone; these subsequently resolve or normalize, although nephrocalcinosis may persist (Laghmani et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934787">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1642840"><div><strong>Familial hemophagocytic lymphohistiocytosis type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642840</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551514</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1642840">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1634867"><div><strong>Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1634867</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4693567</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1634867">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648311"><div><strong>Diarrhea 10, protein-losing enteropathy type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648311</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4748579</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diarrhea-10 (DIAR10) is a protein-losing enteropathy characterized by intractable secretory diarrhea and massive protein loss due to leaky fenestrated capillaries. Features include early-onset anasarca, severe hypoalbuminemia, hypogammaglobulinemia, and hypertriglyceridemia, as well as electrolyte abnormalities. Some patients exhibit facial dysmorphism and cardiac and renal anomalies. Intrafamilial variability has been observed, and the disease can be severe, with death occurring in infancy in some patients (Broekaert et al., 2018; Kurolap et al., 2018). For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648311">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648336"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 32</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648336</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4748839</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648336">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1667331"><div><strong>Spinocerebellar ataxia, autosomal recessive 23</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1667331</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4750914</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive spinocerebellar ataxia-23 is a neurologic disorder characterized by epilepsy, intellectual disability, and gait ataxia (summary by Gomez-Herreros et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1667331">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1673394"><div><strong>Encephalopathy, acute, infection-induced, susceptibility to, 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1673394</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5193089</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Susceptibility to acute infection-induced encephalopathy-9 (IIAE9) is an autosomal recessive disorder characterized by episodic acute neurodegeneration and developmental regression associated with infections and febrile illness. Patients present in the first months or years of life, often after normal or only mildly delayed early development. Some patients may have partial recovery between episodes, such as transient ataxia, but the overall disease course is progressive, resulting in global developmental delay, abnormal movements, refractory seizures, microcephaly, and cerebellar atrophy (summary by Fichtman et al., 2019). For a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see 610551.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1673394">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823950"><div><strong>Pseudohypoaldosteronism, type IB1, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823950</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5774176</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Autosomal recessive pseudohypoaldosteronism type I, including PHA1B1, is characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially threatening in the neonatal period. Laboratory evaluation shows hyponatremia, hyperkalemia, and increased plasma renin activity with high serum aldosterone concentrations. Respiratory tract infections are common in affected children and may be mistaken for cystic fibrosis (CF; 219700). Aggressive salt replacement and control of hyperkalemia results in survival, and the disorder appears to become less severe with age (review by Scheinman et al., 1999). A milder, autosomal dominant form of type I pseudohypoaldosteronism (PHA1A; 177735) is caused by mutations in the mineralocorticoid receptor gene (MCR, NR3C2; 600983). Gitelman syndrome (263800), another example of primary renal tubular salt wasting, is due to mutation in the thiazide-sensitive sodium-chloride cotransporter (SLC12A3; 600968). Hanukoglu and Hanukoglu (2016) provided a detailed review of the ENaC gene family, including structure, function, tissue distribution, and associated inherited diseases.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1823950">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1823968"><div><strong>Liver disease, severe congenital</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823968</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5774195</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severe congenital liver disease (SCOLIV) is an autosomal recessive disorder characterized by the onset of progressive hepatic dysfunction usually in the first years of life. Affected individuals show feeding difficulties with failure to thrive and features such as jaundice, hepatomegaly, and abdominal distension. Laboratory workup is consistent with hepatic insufficiency and may also show coagulation defects, anemia, or metabolic disturbances. Cirrhosis and hypernodularity are commonly observed on liver biopsy. Many patients die of liver failure in early childhood (Moreno Traspas et al., 2022).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1823968">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824028"><div><strong>Pseudohypoaldosteronism, type IB2, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824028</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5774255</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Autosomal recessive pseudohypoaldosteronism type IB2 (PHA1B2) is characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially threatening in the neonatal period. Laboratory evaluation shows hyponatremia, hyperkalemia, and increased plasma renin activity with high serum aldosterone concentrations. Respiratory tract infections are common in affected children and may be mistaken for cystic fibrosis (CF; 219700). Aggressive salt replacement and control of hyperkalemia results in survival, and the disorder appears to become less severe with age (review by Scheinman et al., 1999).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824028">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824029"><div><strong>Pseudohypoaldosteronism, type IB3, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824029</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5774256</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive pseudohypoaldosteronism type IB3 (PHA1B3) is characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially threatening in the neonatal period. Laboratory evaluation shows hyponatremia, hyperkalemia, and increased plasma renin activity with high serum aldosterone concentrations. Respiratory tract infections are common in affected children and may be mistaken for cystic fibrosis (CF; 219700). Aggressive salt replacement and control of hyperkalemia results in survival, and the disorder appears to become less severe with age (review by Scheinman et al., 1999).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1824029">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1824039"><div><strong>Hypomagnesemia 7, renal, with or without dilated cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824039</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5774266</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Renal hypomagnesemia-7 with or without dilated cardiomyopathy (HOMG7) is characterized primarily by renal salt wasting resulting in hypomagnesemia with secondary effects such as hypokalemia or hypocalcemia. Many patients develop nephrocalcinosis, although renal function is generally well-preserved. The age at onset is highly variable, ranging from infancy to young adulthood. A subset of patients develop severe dilated cardiomyopathy as early as in infancy, which may require heart transplant (Schlingmann et al., 2021). For a discussion of genetic heterogeneity of hypomagnesemia, see 602014.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1824039">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1824042"><div><strong>Rabin-Pappas syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824042</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5774269</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Rabin-Pappas syndrome (RAPAS) is a multisystemic disorder characterized by severely impaired global development apparent from infancy, feeding difficulties with failure to thrive, small head circumference, and dysmorphic facial features. Affected individuals have impaired intellectual development and hypotonia; they do not achieve walking or meaningful speech. Other neurologic findings may include seizures, hearing loss, ophthalmologic defects, and brain imaging abnormalities. There is variable involvement of other organ systems, including skeletal, genitourinary, cardiac, and possibly endocrine (Rabin et al., 2020).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1824042">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1824044"><div><strong>Intellectual developmental disorder, autosomal dominant 70</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824044</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5774271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autosomal dominant intellectual developmental disorder-70 (MRD70) is characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities. More variable findings may include hypotonia and dysmorphic features (Rabin et al., 2020)</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1824044">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_452446" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3 beta-Hydroxysteroid dehydrogenase deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332474" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">AICA-ribosiduria</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461449" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_260623" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant pseudohypoaldosteronism type 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355430" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bartter disease type 4A</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (33)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934772" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bartter disease type 4B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934787" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bartter disease type 5</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_87442" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital adrenal hypoplasia, X-linked</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78631" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital secretory diarrhea, chloride type</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82784" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corticosterone 18-monooxygenase deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_483046" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corticosterone methyloxidase type 2 deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648311" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diarrhea 10, protein-losing enteropathy type</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1673394" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Encephalopathy, acute, infection-induced, susceptibility to, 9</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial hemophagocytic lymphohistiocytosis 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1642840" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial hemophagocytic lymphohistiocytosis type 1</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355842" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766501" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glucocorticoid deficiency 4</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462559" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824039" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypomagnesemia 7, renal, with or without dilated cardiomyopathy</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824044" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder, autosomal dominant 70</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333560" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isolated hyperchlorhidrosis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823968" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Liver disease, severe congenital</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_924576" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MIRAGE syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648336" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 32</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336877" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrogenic syndrome of inappropriate antidiuresis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephropathic cystinosis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1634867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1324" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary adrenocortical insufficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823950" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pseudohypoaldosteronism, type IB1, autosomal recessive</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824028" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pseudohypoaldosteronism, type IB2, autosomal recessive</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824029" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pseudohypoaldosteronism, type IB3, autosomal recessive</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824042" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rabin-Pappas syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1667331" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia, autosomal recessive 23</a></div></span></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
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<div class="nl"><a target="_blank" href="/pubmed/39009016">Hyponatraemia-treatment standard 2024.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spasovski G</span><br />
|
||
<span class="medgenPMjournal">Nephrol Dial Transplant</span>
|
||
2024 Sep 27;39(10):1583-1592.
|
||
doi: 10.1093/ndt/gfae162.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39009016" target="_blank">39009016</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35852524">Diagnosis and Management of Hyponatremia: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adrogué HJ,
|
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Tucker BM,
|
||
Madias NE</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2022 Jul 19;328(3):280-291.
|
||
doi: 10.1001/jama.2022.11176.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35852524" target="_blank">35852524</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35771962">Diagnosis and Management of Central Diabetes Insipidus in Adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tomkins M,
|
||
Lawless S,
|
||
Martin-Grace J,
|
||
Sherlock M,
|
||
Thompson CJ</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2022 Sep 28;107(10):2701-2715.
|
||
doi: 10.1210/clinem/dgac381.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35771962" target="_blank">35771962</a><a href="/pmc/articles/PMC9516129" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hyponatremia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (581)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36868737">Hyponatremia Demystified: Integrating Physiology to Shape Clinical Practice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Workeneh BT,
|
||
Meena P,
|
||
Christ-Crain M,
|
||
Rondon-Berrios H</span><br />
|
||
<span class="medgenPMjournal">Adv Kidney Dis Health</span>
|
||
2023 Mar;30(2):85-101.
|
||
Epub 2022 Dec 14
|
||
doi: 10.1053/j.akdh.2022.11.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36868737" target="_blank">36868737</a><a href="/pmc/articles/PMC9993811" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35852524">Diagnosis and Management of Hyponatremia: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adrogué HJ,
|
||
Tucker BM,
|
||
Madias NE</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2022 Jul 19;328(3):280-291.
|
||
doi: 10.1001/jama.2022.11176.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35852524" target="_blank">35852524</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35511757">Approach to the Patient: Hyponatremia and the Syndrome of Inappropriate Antidiuresis (SIAD).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martin-Grace J,
|
||
Tomkins M,
|
||
O'Reilly MW,
|
||
Thompson CJ,
|
||
Sherlock M</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2022 Jul 14;107(8):2362-2376.
|
||
doi: 10.1210/clinem/dgac245.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35511757" target="_blank">35511757</a><a href="/pmc/articles/PMC9282351" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31567743">Managing hyponatremia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boyle R</span><br />
|
||
<span class="medgenPMjournal">JAAPA</span>
|
||
2019 Oct;32(10):48-50.
|
||
doi: 10.1097/01.JAA.0000578796.15417.09.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31567743" target="_blank">31567743</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18468754">A review of drug-induced hyponatremia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liamis G,
|
||
Milionis H,
|
||
Elisaf M</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2008 Jul;52(1):144-53.
|
||
Epub 2008 May 12
|
||
doi: 10.1053/j.ajkd.2008.03.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18468754" target="_blank">18468754</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyponatremia%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4257)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37758418">Disorders of Sodium.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alindogan A,
|
||
Joseph R</span><br />
|
||
<span class="medgenPMjournal">Emerg Med Clin North Am</span>
|
||
2023 Nov;41(4):697-709.
|
||
Epub 2023 Jul 19
|
||
doi: 10.1016/j.emc.2023.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37758418" target="_blank">37758418</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36974717">Syndrome of Inappropriate Antidiuresis: From Pathophysiology to Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Warren AM,
|
||
Grossmann M,
|
||
Christ-Crain M,
|
||
Russell N</span><br />
|
||
<span class="medgenPMjournal">Endocr Rev</span>
|
||
2023 Sep 15;44(5):819-861.
|
||
doi: 10.1210/endrev/bnad010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36974717" target="_blank">36974717</a><a href="/pmc/articles/PMC10502587" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35870366">Hyponatremia in the emergency department.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lindner G,
|
||
Schwarz C,
|
||
Haidinger M,
|
||
Ravioli S</span><br />
|
||
<span class="medgenPMjournal">Am J Emerg Med</span>
|
||
2022 Oct;60:1-8.
|
||
Epub 2022 Jul 19
|
||
doi: 10.1016/j.ajem.2022.07.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35870366" target="_blank">35870366</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35852524">Diagnosis and Management of Hyponatremia: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adrogué HJ,
|
||
Tucker BM,
|
||
Madias NE</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2022 Jul 19;328(3):280-291.
|
||
doi: 10.1001/jama.2022.11176.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35852524" target="_blank">35852524</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28174217">Diagnosis and Treatment of Hyponatremia: Compilation of the Guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoorn EJ,
|
||
Zietse R</span><br />
|
||
<span class="medgenPMjournal">J Am Soc Nephrol</span>
|
||
2017 May;28(5):1340-1349.
|
||
Epub 2017 Feb 7
|
||
doi: 10.1681/ASN.2016101139.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28174217" target="_blank">28174217</a><a href="/pmc/articles/PMC5407738" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyponatremia%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4233)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33104189">Risk of Overcorrection in Rapid Intermittent Bolus vs Slow Continuous Infusion Therapies of Hypertonic Saline for Patients With Symptomatic Hyponatremia: The SALSA Randomized Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baek SH,
|
||
Jo YH,
|
||
Ahn S,
|
||
Medina-Liabres K,
|
||
Oh YK,
|
||
Lee JB,
|
||
Kim S</span><br />
|
||
<span class="medgenPMjournal">JAMA Intern Med</span>
|
||
2021 Jan 1;181(1):81-92.
|
||
doi: 10.1001/jamainternmed.2020.5519.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33104189" target="_blank">33104189</a><a href="/pmc/articles/PMC7589081" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24074529">Diagnosis, evaluation, and treatment of hyponatremia: expert panel recommendations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verbalis JG,
|
||
Goldsmith SR,
|
||
Greenberg A,
|
||
Korzelius C,
|
||
Schrier RW,
|
||
Sterns RH,
|
||
Thompson CJ</span><br />
|
||
<span class="medgenPMjournal">Am J Med</span>
|
||
2013 Oct;126(10 Suppl 1):S1-42.
|
||
doi: 10.1016/j.amjmed.2013.07.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24074529" target="_blank">24074529</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18480571">Treatment of hyponatremia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gross P</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
2008;47(10):885-91.
|
||
Epub 2008 May 15
|
||
doi: 10.2169/internalmedicine.47.0918.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18480571" target="_blank">18480571</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16085929">Treatment of electrolyte disorders in adult patients in the intensive care unit.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kraft MD,
|
||
Btaiche IF,
|
||
Sacks GS,
|
||
Kudsk KA</span><br />
|
||
<span class="medgenPMjournal">Am J Health Syst Pharm</span>
|
||
2005 Aug 15;62(16):1663-82.
|
||
doi: 10.2146/ajhp040300.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16085929" target="_blank">16085929</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2184401">Hyponatremia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berry PL,
|
||
Belsha CW</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
1990 Apr;37(2):351-63.
|
||
doi: 10.1016/s0031-3955(16)36873-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2184401" target="_blank">2184401</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyponatremia%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4916)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39556338">Correction Rates and Clinical Outcomes in Hospitalized Adults With Severe Hyponatremia: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ayus JC,
|
||
Moritz ML,
|
||
Fuentes NA,
|
||
Mejia JR,
|
||
Alfonso JM,
|
||
Shin S,
|
||
Fralick M,
|
||
Ciapponi A</span><br />
|
||
<span class="medgenPMjournal">JAMA Intern Med</span>
|
||
2025 Jan 1;185(1):38-51.
|
||
doi: 10.1001/jamainternmed.2024.5981.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39556338" target="_blank">39556338</a><a href="/pmc/articles/PMC11574719" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27737595">Hyponatremia induced by antiepileptic drugs in patients with epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu X,
|
||
Wang X</span><br />
|
||
<span class="medgenPMjournal">Expert Opin Drug Saf</span>
|
||
2017 Jan;16(1):77-87.
|
||
Epub 2016 Oct 27
|
||
doi: 10.1080/14740338.2017.1248399.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27737595" target="_blank">27737595</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18468754">A review of drug-induced hyponatremia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liamis G,
|
||
Milionis H,
|
||
Elisaf M</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2008 Jul;52(1):144-53.
|
||
Epub 2008 May 12
|
||
doi: 10.1053/j.ajkd.2008.03.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18468754" target="_blank">18468754</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16934202">Exertional hyponatremia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Armstrong LE,
|
||
Casa DJ,
|
||
Watson G</span><br />
|
||
<span class="medgenPMjournal">Curr Sports Med Rep</span>
|
||
2006 Sep;5(5):221-2.
|
||
doi: 10.1097/01.csmr.0000306418.01167.46.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16934202" target="_blank">16934202</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8728259">Peritoneal dialysis prescription for neonates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fischbach M</span><br />
|
||
<span class="medgenPMjournal">Perit Dial Int</span>
|
||
1996;16 Suppl 1:S512-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8728259" target="_blank">8728259</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyponatremia%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2650)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38320180">Severe Hyponatremia Correction, Mortality, and Central Pontine Myelinolysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seethapathy H,
|
||
Zhao S,
|
||
Ouyang T,
|
||
Passos C,
|
||
Sarang A,
|
||
Cheung PW,
|
||
Waikar SS,
|
||
Steele DJR,
|
||
Kalim S,
|
||
Allegretti AS,
|
||
Ayus JC,
|
||
Nigwekar SU</span><br />
|
||
<span class="medgenPMjournal">NEJM Evid</span>
|
||
2023 Oct;2(10):EVIDoa2300107.
|
||
Epub 2023 Sep 26
|
||
doi: 10.1056/EVIDoa2300107.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38320180" target="_blank">38320180</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35103928">A systematic review and meta-analysis of risk factors and treatment choices in emphysematous pyelonephritis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Desai R,
|
||
Batura D</span><br />
|
||
<span class="medgenPMjournal">Int Urol Nephrol</span>
|
||
2022 Apr;54(4):717-736.
|
||
Epub 2022 Feb 1
|
||
doi: 10.1007/s11255-022-03131-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35103928" target="_blank">35103928</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30776953">Sacubitril/Valsartan (Entresto®)-Induced Hyponatremia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fuzaylova I,
|
||
Lam C,
|
||
Talreja O,
|
||
Makaryus AN,
|
||
Ahern D,
|
||
Cassagnol M</span><br />
|
||
<span class="medgenPMjournal">J Pharm Pract</span>
|
||
2020 Oct;33(5):696-699.
|
||
Epub 2019 Feb 18
|
||
doi: 10.1177/0897190019828915.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30776953" target="_blank">30776953</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32097926">Exercise-Associated Hyponatremia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hew-Butler T</span><br />
|
||
<span class="medgenPMjournal">Front Horm Res</span>
|
||
2019;52:178-189.
|
||
Epub 2019 Jan 15
|
||
doi: 10.1159/000493247.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32097926" target="_blank">32097926</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10768609">The urine/plasma electrolyte ratio: a predictive guide to water restriction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Furst H,
|
||
Hallows KR,
|
||
Post J,
|
||
Chen S,
|
||
Kotzker W,
|
||
Goldfarb S,
|
||
Ziyadeh FN,
|
||
Neilson EG</span><br />
|
||
<span class="medgenPMjournal">Am J Med Sci</span>
|
||
2000 Apr;319(4):240-4.
|
||
doi: 10.1097/00000441-200004000-00007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10768609" target="_blank">10768609</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyponatremia%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2520)</a></div></div>
|
||
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|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39556338">Correction Rates and Clinical Outcomes in Hospitalized Adults With Severe Hyponatremia: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ayus JC,
|
||
Moritz ML,
|
||
Fuentes NA,
|
||
Mejia JR,
|
||
Alfonso JM,
|
||
Shin S,
|
||
Fralick M,
|
||
Ciapponi A</span><br />
|
||
<span class="medgenPMjournal">JAMA Intern Med</span>
|
||
2025 Jan 1;185(1):38-51.
|
||
doi: 10.1001/jamainternmed.2024.5981.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39556338" target="_blank">39556338</a><a href="/pmc/articles/PMC11574719" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36289081">ESPNIC clinical practice guidelines: intravenous maintenance fluid therapy in acute and critically ill children- a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brossier DW,
|
||
Tume LN,
|
||
Briant AR,
|
||
Jotterand Chaparro C,
|
||
Moullet C,
|
||
Rooze S,
|
||
Verbruggen SCAT,
|
||
Marino LV,
|
||
Alsohime F,
|
||
Beldjilali S,
|
||
Chiusolo F,
|
||
Costa L,
|
||
Didier C,
|
||
Ilia S,
|
||
Joram NL,
|
||
Kneyber MCJ,
|
||
Kühlwein E,
|
||
Lopez J,
|
||
López-Herce J,
|
||
Mayberry HF,
|
||
Mehmeti F,
|
||
Mierzewska-Schmidt M,
|
||
Miñambres Rodríguez M,
|
||
Morice C,
|
||
Pappachan JV,
|
||
Porcheret F,
|
||
Reis Boto L,
|
||
Schlapbach LJ,
|
||
Tekguc H,
|
||
Tziouvas K,
|
||
Parienti JJ,
|
||
Goyer I,
|
||
Valla FV;
|
||
Metabolism Endocrinology and Nutrition section of the European Society of Pediatric and Neonatal Intensive Care (ESPNIC)</span><br />
|
||
<span class="medgenPMjournal">Intensive Care Med</span>
|
||
2022 Dec;48(12):1691-1708.
|
||
Epub 2022 Oct 26
|
||
doi: 10.1007/s00134-022-06882-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36289081" target="_blank">36289081</a><a href="/pmc/articles/PMC9705511" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35329337">Effects of Sodium Intake on Health and Performance in Endurance and Ultra-Endurance Sports.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Veniamakis E,
|
||
Kaplanis G,
|
||
Voulgaris P,
|
||
Nikolaidis PT</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2022 Mar 19;19(6)
|
||
doi: 10.3390/ijerph19063651.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35329337" target="_blank">35329337</a><a href="/pmc/articles/PMC8955583" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35103928">A systematic review and meta-analysis of risk factors and treatment choices in emphysematous pyelonephritis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Desai R,
|
||
Batura D</span><br />
|
||
<span class="medgenPMjournal">Int Urol Nephrol</span>
|
||
2022 Apr;54(4):717-736.
|
||
Epub 2022 Feb 1
|
||
doi: 10.1007/s11255-022-03131-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35103928" target="_blank">35103928</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25220878">Central pontine and extrapontine myelinolysis: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh TD,
|
||
Fugate JE,
|
||
Rabinstein AA</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2014 Dec;21(12):1443-50.
|
||
Epub 2014 Sep 15
|
||
doi: 10.1111/ene.12571.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25220878" target="_blank">25220878</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyponatremia%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (140)</a></div></div>
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|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hyponatremia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Hyponatremia%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d4d03f67c23b31e0758849">Hyponatremia</a>
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