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<meta name="keywords" content="C1846347, finding, loss of salt in urine, renal salt wasting, renal salt-wasting, salt wasting, salt-wasting, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=375868
|
||
ConceptID=C1846347
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Renal salt wasting</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375868</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.">C1846347</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Salt wasting; Salt-wasting</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000127">HP:0000127</a></td></tr>
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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>
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||
<div class="portlet_content ln">A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s). [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 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 unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Renal salt wasting</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/52948" ref="tree=MeSH" title="MedGen record for Abnormality of the genitourinary system">Abnormality of the genitourinary system</a></span><ul><li><span class="TLline"><a href="/medgen/867444" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system">Abnormality of the urinary system</a></span><ul><li><span class="TLline"><a href="/medgen/869020" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system physiology">Abnormality of the urinary system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/871178" ref="tree=MeSH" title="MedGen record for Abnormality of urine homeostasis">Abnormality of urine homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/868439" ref="tree=MeSH" title="MedGen record for Abnormal urinary electrolyte concentration">Abnormal urinary electrolyte concentration</a></span><ul><li><span class="matched_ds">Renal salt wasting</span></li></ul></li></ul></li></ul></li></ul></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>
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<div class="portlet_content ln clinfeat">
|
||
<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_83341"><div><strong>Congenital lipoid adrenal hyperplasia due to STAR deficency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83341</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.">C0342474</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lipoid congenital adrenal hyperplasia, the most severe disorder of steroid hormone biosynthesis, is caused by a defect in the conversion of cholesterol to pregnenolone, the first step in adrenal and gonadal steroidogenesis. All affected individuals are phenotypic females with a severe salt-losing syndrome that is fatal if not treated in early infancy (summary by Lin et al., 1991 and Bose et al., 1996).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83341">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_335399"><div><strong>Bartter disease type 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335399</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.">C1846343</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). Genetic Heterogeneity of Bartter Syndrome Antenatal Bartter syndrome type 1 (601678) is caused by loss-of-function mutations in the butmetanide-sensitive Na-K-2Cl cotransporter NKCC2 (SLC12A1; 600839). Antenatal Bartter syndrome type 2 (241200) is caused by loss-of-function mutations in the ATP-sensitive potassium channel ROMK (KCNJ1; 600359). One form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4A (602522), is caused by mutation in the BSND gene (606412). Another form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4B (613090), is caused by simultaneous mutation in both the CLCNKA (602024) and CLCNKB (602023) genes. Also see autosomal dominant hypocalcemia-1 with Bartter syndrome (601198), which is sometimes referred to as Bartter syndrome type 5 (Fremont and Chan, 2012), caused by mutation in the CASR gene (601199). See Gitelman syndrome (GTLMN; 263800), which is often referred to as a mild variant of Bartter syndrome, caused by mutation in the thiazide-sensitive sodium-chloride cotransporter SLC12A3 (600968).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335399">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343428"><div><strong>Bartter disease type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343428</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.">C1855849</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 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/343428">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_355727"><div><strong>Bartter disease type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355727</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.">C1866495</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 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/355727">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_358137"><div><strong>Tubulointerstitial kidney disease, autosomal dominant, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358137</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.">C1868139</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant tubulointerstitial kidney disease – MUC1 (ADTKD-MUC1) is characterized by slowly progressive tubulointerstitial disease that leads to end-stage renal disease (ESRD) and the need for dialysis or kidney transplantation. The rate of loss of kidney function for individuals is variable within and between families, with a median age of onset of end-stage renal disease (ESRD) of 46 years (range: ages 20-70 years). There are no other systemic manifestations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/358137">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_411243"><div><strong>EAST syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>411243</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.">C2748572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Syndrome with characteristics of seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance. It has been described in five patients from four families. The disease is caused by homozygous or compound heterozygous mutations in the KCNJ10 gene, encoding a potassium channel expressed in the brain, spinal cord, inner ear and kidneys. Transmission is autosomal recessive.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/411243">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_424833"><div><strong>Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>424833</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.">C2936858</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH), a family of autosomal recessive disorders involving impaired synthesis of cortisol from cholesterol by the adrenal cortex. In 21-OHD CAH, excessive adrenal androgen biosynthesis results in virilization in all individuals and salt wasting in some individuals. A classic form with severe enzyme deficiency and prenatal onset of virilization is distinguished from a non-classic form with mild enzyme deficiency and postnatal onset. The classic form is further divided into the simple virilizing form (~25% of affected individuals) and the salt-wasting form, in which aldosterone production is inadequate (=75% of individuals). Newborns with salt-wasting 21-OHD CAH are at risk for life-threatening salt-wasting crises. Individuals with the non-classic form of 21-OHD CAH present postnatally with signs of hyperandrogenism; females with the non-classic form are not virilized at birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/424833">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462405"><div><strong>Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462405</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.">C3151055</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">P450scc deficiency is a rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are grossly elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure (summary by Kim et al., 2008). Although hormonal and phenotypic features can resemble those of congenital lipoid adrenal hyperplasia (lipoid CAH; 201710), no patient with P450scc deficiency has been described with the massive adrenal enlargement typical of lipoid CAH (summary by Sahakitrungruang et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462405">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_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_1785163"><div><strong>Hypokalemic tubulopathy and deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1785163</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.">C5543621</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypokalemic tubulopathy and deafness (HKTD) is an autosomal recessive disorder characterized by hypokalemic tubulopathy with renal salt wasting, disturbed acid-base homeostasis, and sensorineural deafness (Schlingmann et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1785163">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>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823950">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1847314"><div><strong>Yuksel-Vogel-Bauer syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1847314</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.">C5882751</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Yuksel-Vogel-Bauer syndrome (YUVOB) is a multisystemic disorder characterized by variable congenital defects involving the brain, kidney, heart, and/or skeletal system. Features may include hydrocephalus, developmental delay, cleft lip/palate, cystic renal dysplasia or tubular leak, cardiac septal defects, and broad hands and feet (Yuksel et al., 2019; Marquez et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1847314">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355727" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bartter disease type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bartter disease type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335399" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bartter disease type 3</a></div>
|
||
<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="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="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (18)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_424833" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency</a></div>
|
||
<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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462405" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83341" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital lipoid adrenal hyperplasia due to STAR deficency</a></div>
|
||
<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>
|
||
<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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_411243" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EAST syndrome</a></div>
|
||
<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>
|
||
<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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1785163" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypokalemic tubulopathy and deafness</a></div>
|
||
<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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_358137" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tubulointerstitial kidney disease, autosomal dominant, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1847314" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Yuksel-Vogel-Bauer syndrome</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<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>
|
||
<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>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34468821">Differential diagnosis between syndrome of inappropriate antidiuretic hormone secretion and cerebral/renal salt wasting syndrome in children over 1 year: proposal for a simple algorithm.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bardanzellu F,
|
||
Marcialis MA,
|
||
Frassetto R,
|
||
Melis A,
|
||
Fanos V</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2022 Jul;37(7):1469-1478.
|
||
Epub 2021 Sep 1
|
||
doi: 10.1007/s00467-021-05250-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34468821" target="_blank">34468821</a><a href="/pmc/articles/PMC9192468" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24862500">Evaluation and management of hyponatraemia in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zieg J</span><br />
|
||
<span class="medgenPMjournal">Acta Paediatr</span>
|
||
2014 Oct;103(10):1027-34.
|
||
Epub 2014 Jul 1
|
||
doi: 10.1111/apa.12705.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24862500" target="_blank">24862500</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14061065">GOUT AND SALT-WASTING RENAL DISEASE DURING PREGNANCY; DIAGNOSIS, MANAGEMENT, AND FOLLOW-UP.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">BATT RE,
|
||
CIRKSENA WJ,
|
||
LEBHERZ TB</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
1963 Nov 30;186:835-8.
|
||
doi: 10.1001/jama.1963.03710090035007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14061065" target="_blank">14061065</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22renal%20salt%20wasting%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 (4)</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/35129877">Carboplatin-induced renal salt-wasting syndrome in pediatric patients with intracranial germ cell tumors and concomitant diabetes insipidus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wan T,
|
||
Yuet-Ling Tung J,
|
||
Ma A,
|
||
Lai-Ka Lee S,
|
||
Pak-Yin Liu A,
|
||
Tak-Loi Ku D,
|
||
Yau PW,
|
||
Ming-Kong Shing M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Blood Cancer</span>
|
||
2022 May;69(5):e29592.
|
||
Epub 2022 Feb 7
|
||
doi: 10.1002/pbc.29592.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35129877" target="_blank">35129877</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31401632">Clinical Approach to Sodium Homeostasis Disorders in Children with Pituitary-Suprasellar Tumors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tuli G,
|
||
Matarazzo P,
|
||
de Sanctis L</span><br />
|
||
<span class="medgenPMjournal">Neuroendocrinology</span>
|
||
2020;110(3-4):161-171.
|
||
Epub 2019 Aug 12
|
||
doi: 10.1159/000502609.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31401632" target="_blank">31401632</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27906863">Bartter's and Gitelman's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seyberth HW,
|
||
Weber S,
|
||
Kömhoff M</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2017 Apr;29(2):179-186.
|
||
doi: 10.1097/MOP.0000000000000447.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27906863" target="_blank">27906863</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24659592">Nephrocalcinosis as adult presentation of Bartter syndrome type II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang L,
|
||
Luiken GP,
|
||
van Riemsdijk IC,
|
||
Petrij F,
|
||
Zandbergen AA,
|
||
Dees A</span><br />
|
||
<span class="medgenPMjournal">Neth J Med</span>
|
||
2014 Feb;72(2):91-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24659592" target="_blank">24659592</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12920401">Bartter syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hebert SC</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Nephrol Hypertens</span>
|
||
2003 Sep;12(5):527-32.
|
||
doi: 10.1097/00041552-200309000-00008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12920401" target="_blank">12920401</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20salt%20wasting%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 (27)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31222768">Exome Sequencing in Clinical Hepatology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vilarinho S,
|
||
Mistry PK</span><br />
|
||
<span class="medgenPMjournal">Hepatology</span>
|
||
2019 Dec;70(6):2185-2192.
|
||
doi: 10.1002/hep.30826.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31222768" target="_blank">31222768</a><a href="/pmc/articles/PMC6885087" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30454738">Bartter Syndrome and Gitelman Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fulchiero R,
|
||
Seo-Mayer P</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2019 Feb;66(1):121-134.
|
||
doi: 10.1016/j.pcl.2018.08.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30454738" target="_blank">30454738</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24855080">Sepsis-related hypertensive response: friend or foe?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saleh M</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2014 May 22;2014
|
||
doi: 10.1136/bcr-2014-204610.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24855080" target="_blank">24855080</a><a href="/pmc/articles/PMC4039975" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23891358">Trimethoprim-associated hyponatremia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Babayev R,
|
||
Terner S,
|
||
Chandra S,
|
||
Radhakrishnan J,
|
||
Mohan S</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2013 Dec;62(6):1188-92.
|
||
Epub 2013 Jul 26
|
||
doi: 10.1053/j.ajkd.2013.06.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23891358" target="_blank">23891358</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10435675">Hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Warnock DG</span><br />
|
||
<span class="medgenPMjournal">Semin Nephrol</span>
|
||
1999 Jul;19(4):374-80.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10435675" target="_blank">10435675</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20salt%20wasting%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 (70)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38353669">Renal Salt Wasting Following Cisplatin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Latcha S,
|
||
Chughtai S</span><br />
|
||
<span class="medgenPMjournal">Kidney360</span>
|
||
2024 Apr 1;5(4):604-606.
|
||
Epub 2024 Feb 14
|
||
doi: 10.34067/KID.0000000000000394.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38353669" target="_blank">38353669</a><a href="/pmc/articles/PMC11093533" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35129877">Carboplatin-induced renal salt-wasting syndrome in pediatric patients with intracranial germ cell tumors and concomitant diabetes insipidus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wan T,
|
||
Yuet-Ling Tung J,
|
||
Ma A,
|
||
Lai-Ka Lee S,
|
||
Pak-Yin Liu A,
|
||
Tak-Loi Ku D,
|
||
Yau PW,
|
||
Ming-Kong Shing M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Blood Cancer</span>
|
||
2022 May;69(5):e29592.
|
||
Epub 2022 Feb 7
|
||
doi: 10.1002/pbc.29592.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35129877" target="_blank">35129877</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23891358">Trimethoprim-associated hyponatremia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Babayev R,
|
||
Terner S,
|
||
Chandra S,
|
||
Radhakrishnan J,
|
||
Mohan S</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2013 Dec;62(6):1188-92.
|
||
Epub 2013 Jul 26
|
||
doi: 10.1053/j.ajkd.2013.06.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23891358" target="_blank">23891358</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6538257">Cisplatinum-induced renal salt wasting.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kurtzberg J,
|
||
Dennis VW,
|
||
Kinney TR</span><br />
|
||
<span class="medgenPMjournal">Med Pediatr Oncol</span>
|
||
1984;12(2):150-4.
|
||
doi: 10.1002/mpo.2950120219.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6538257" target="_blank">6538257</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6604867">Renal salt wasting and metabolic acidosis with trimethoprim-sulfamethoxazole therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaufman AM,
|
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Hellman G,
|
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Abramson RG</span><br />
|
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<span class="medgenPMjournal">Mt Sinai J Med</span>
|
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1983 May-Jun;50(3):238-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6604867" target="_blank">6604867</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20salt%20wasting%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 (38)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31401632">Clinical Approach to Sodium Homeostasis Disorders in Children with Pituitary-Suprasellar Tumors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tuli G,
|
||
Matarazzo P,
|
||
de Sanctis L</span><br />
|
||
<span class="medgenPMjournal">Neuroendocrinology</span>
|
||
2020;110(3-4):161-171.
|
||
Epub 2019 Aug 12
|
||
doi: 10.1159/000502609.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31401632" target="_blank">31401632</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28302238">Gitelman Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mustafa QU,
|
||
Haroon ZH,
|
||
Ijaz A,
|
||
Sajid MT,
|
||
Ayyub M</span><br />
|
||
<span class="medgenPMjournal">J Coll Physicians Surg Pak</span>
|
||
2017 Mar;27(3):S30-S32.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28302238" target="_blank">28302238</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20622742">Cisplatin-induced renal salt wasting syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hamdi T,
|
||
Latta S,
|
||
Jallad B,
|
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Kheir F,
|
||
Alhosaini MN,
|
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Patel A</span><br />
|
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<span class="medgenPMjournal">South Med J</span>
|
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2010 Aug;103(8):793-9.
|
||
doi: 10.1097/SMJ.0b013e3181e63682.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20622742" target="_blank">20622742</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15134810">Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sartorato P,
|
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Khaldi Y,
|
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Lapeyraque AL,
|
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Armanini D,
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Kuhnle U,
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Salomon R,
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Caprio M,
|
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Viengchareun S,
|
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Lombès M,
|
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Zennaro MC</span><br />
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<span class="medgenPMjournal">Mol Cell Endocrinol</span>
|
||
2004 Mar 31;217(1-2):119-25.
|
||
doi: 10.1016/j.mce.2003.10.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15134810" target="_blank">15134810</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1339077">Renal salt wasting in patients treated with high-dose cisplatin, etoposide, and mitomycin in patients with advanced non-small cell lung cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee YK,
|
||
Shin DM</span><br />
|
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<span class="medgenPMjournal">Korean J Intern Med</span>
|
||
1992 Jul;7(2):118-21.
|
||
doi: 10.3904/kjim.1992.7.2.118.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1339077" target="_blank">1339077</a><a href="/pmc/articles/PMC4532106" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20salt%20wasting%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 (20)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30935460">Hyponatremia secondary to transient renal salt wasting (TRSW): A not so uncommon observation in the elderly
.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Musch W,
|
||
Decaux G</span><br />
|
||
<span class="medgenPMjournal">Clin Nephrol</span>
|
||
2019 Jun;91(6):344-352.
|
||
doi: 10.5414/CN109472.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30935460" target="_blank">30935460</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20172860">Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zaucke F,
|
||
Boehnlein JM,
|
||
Steffens S,
|
||
Polishchuk RS,
|
||
Rampoldi L,
|
||
Fischer A,
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Pasch A,
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Boehm CW,
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Baasner A,
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Attanasio M,
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Hoppe B,
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Hopfer H,
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Beck BB,
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Sayer JA,
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Hildebrandt F,
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<span class="medgenPMjournal">Hum Mol Genet</span>
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2010 May 15;19(10):1985-97.
|
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Epub 2010 Feb 18
|
||
doi: 10.1093/hmg/ddq077.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20172860" target="_blank">20172860</a><a href="/pmc/articles/PMC2860893" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15134810">Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sartorato P,
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Khaldi Y,
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Lapeyraque AL,
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Armanini D,
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Kuhnle U,
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Salomon R,
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Caprio M,
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Viengchareun S,
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2004 Mar 31;217(1-2):119-25.
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doi: 10.1016/j.mce.2003.10.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15134810" target="_blank">15134810</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9326675">A mouse model for the renal salt-wasting syndrome pseudohypoaldosteronism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hummler E,
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Barker P,
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Talbot C,
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Wang Q,
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Verdumo C,
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Grubb B,
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Gatzy J,
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Burnier M,
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Horisberger JD,
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Beermann F,
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1997 Oct 14;94(21):11710-5.
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|
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<span class="bold">PMID: </span><a href="/pubmed/9326675" target="_blank">9326675</a><a href="/pmc/articles/PMC23605" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1339077">Renal salt wasting in patients treated with high-dose cisplatin, etoposide, and mitomycin in patients with advanced non-small cell lung cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee YK,
|
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|
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<span class="medgenPMjournal">Korean J Intern Med</span>
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||
1992 Jul;7(2):118-21.
|
||
doi: 10.3904/kjim.1992.7.2.118.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1339077" target="_blank">1339077</a><a href="/pmc/articles/PMC4532106" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20salt%20wasting%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 (12)</a></div></div>
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