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<meta name="keywords" content="C1704380, acidosis, renal tubular, type i, albright's renal tubular acidosis, autosomal dominant distal renal tubular acidosis, classic distal renal tubular acidosis, classic rta, classic type rta, classic type rtas, disease or syndrome, distal renal tubular acidosis, distal renal tubular acidosis (disease), drta, drta1, familial distal primary acidosis, gradient type rta, gradient type rtas, primary distal renal tubular acidosis, renal tubular acidosis 1, renal tubular acidosis i, renal tubular acidosis type 1, renal tubular acidosis, distal, renal tubular acidosis, distal, 1, renal tubular acidosis, distal, autosomal dominant, renal tubular acidosis, type 1 distal, renal tubular acidosis, type i, rta (renal tubular acidosis) type i, rta, classic type, rta, distal type, autosomal dominant, rta, gradient type, rtas, classic type, rtas, gradient type, type i renal tubular acidosis, 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 type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Distal renal tubular acidosis (Concept Id: C1704380)
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<!--
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||
UID=853429
|
||
ConceptID=C1704380
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Distal renal tubular acidosis<span class="h1sub">(DRTA1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>853429</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:">C1704380</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Acidosis, Renal Tubular, Type I; Autosomal Dominant Distal Renal Tubular Acidosis; Classic Distal Renal Tubular Acidosis; Classic Type RTA; Classic Type RTAs; Distal Renal Tubular Acidosis; Gradient Type RTA; Gradient Type RTAs; Renal Tubular Acidosis 1; Renal Tubular Acidosis I; Renal Tubular Acidosis, Distal, Autosomal Dominant; Renal Tubular Acidosis, Type I; RTA, Classic Type; RTA, Distal Type, Autosomal Dominant; RTA, Gradient Type; RTAs, Classic Type; RTAs, Gradient Type; Type I Renal Tubular Acidosis</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Albright's renal tubular acidosis (236461000); Classic distal renal tubular acidosis (236461000); Type I renal tubular acidosis (236461000); Distal renal tubular acidosis (236461000); RTA (renal tubular acidosis) type I (236461000)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></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:0008341">HP:0008341</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0015827" target="_blank">MONDO:0015827</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/109270" target="_blank">109270</a>; <a href="https://omim.org/entry/179800" target="_blank">179800</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS179800" target="_blank">PS179800</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=18">ORPHA18</a></td></tr></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">A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
|
||
|
||
<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>
|
||
<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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1704380[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=853429">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=853429" target="_blank" href="/omim/109270">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=853429" ref="ncbi_uid=853429">V</a></span></span><span class="TLline">Distal renal tubular acidosis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842302" ref="tree=MeSH" title="MedGen record for Primary renal tubular acidosis">Primary renal tubular acidosis</a></span><ul><li><span class="matched_ds">Distal renal tubular acidosis</span><ul><li><span class="TLline"><a href="/medgen/963849" ref="tree=MeSH" title="MedGen record for Autosomal dominant distal renal tubular acidosis">Autosomal dominant distal renal tubular acidosis</a></span></li><li><span class="TLline"><a href="/medgen/351142" ref="tree=MeSH" title="MedGen record for Autosomal recessive distal renal tubular acidosis">Autosomal recessive distal renal tubular acidosis</a></span></li><li><span class="TLline"><a href="/medgen/870817" ref="tree=MeSH" title="MedGen record for Generalized distal tubular acidosis">Generalized distal tubular acidosis</a></span></li><li><span class="TLline"><a href="/medgen/1771439" ref="tree=MeSH" title="MedGen record for Renal tubular acidosis, distal, 4, with hemolytic anemia">Renal tubular acidosis, distal, 4, with hemolytic anemia</a></span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
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<div class="portlet mgSection" id="ID_112">
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||
<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_120640"><div><strong>Primary hypomagnesemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120640</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.">C0268448</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a progressive renal disorder characterized by excessive urinary Ca(2+) and Mg(2+) excretion. There is progressive loss of kidney function, and in about 50% of cases, the need for renal replacement therapy arises as early as the second decade of life (summary by Muller et al., 2006). Amelogenesis imperfecta may also be present in some patients (Bardet et al., 2016). A similar disorder with renal magnesium wasting, renal failure, and nephrocalcinosis (HOMG5; 248190) is caused by mutations in another tight-junction gene, CLDN19 (610036), and is distinguished by the association of severe ocular involvement. For a discussion of phenotypic and genetic heterogeneity of familial hypomagnesemia, see HOMG1 (602014).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/120640">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_91042"><div><strong>Osteopetrosis with renal tubular acidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91042</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.">C0345407</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteopetrosis is a bone disease that makes bone tissue abnormally compact and dense and also prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant or autosomal recessive. The different types of the disorder can also be distinguished by the severity of their signs and symptoms.\n\nAutosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg disease, is typically the mildest type of the disorder. Some affected individuals have no symptoms. In affected people with no symptoms, the unusually dense bones may be discovered by accident when an x-ray is done for another reason. \n\nIn individuals with ADO who develop signs and symptoms, the major features of the condition include multiple bone fractures after minor injury, abnormal side-to-side curvature of the spine (scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. These problems usually become apparent in late childhood or adolescence.\n\nAutosomal recessive osteopetrosis (ARO) is a more severe form of the disorder that becomes apparent in early infancy. Affected individuals have a high risk of bone fracture resulting from seemingly minor bumps and falls. Their abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. As a result, people with severe osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells (anemia), and recurrent infections. In the most severe cases, these bone marrow abnormalities can be life-threatening in infancy or early childhood.\n\nOther features of autosomal recessive osteopetrosis can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). Depending on the genetic changes involved, people with severe osteopetrosis can also have brain abnormalities, intellectual disability, or recurrent seizures (epilepsy).\n\nA few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive pattern of inheritance. The signs and symptoms of this condition become noticeable in childhood and include an increased risk of bone fracture and anemia. People with this form of the disorder typically do not have life-threatening bone marrow abnormalities. However, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/91042">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_374443"><div><strong>Hypoparathyroidism, deafness, renal disease syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374443</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.">C1840333</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">HDR syndrome (HDRS), also known as Barakat syndrome, is a heterogeneous disorder characterized by the triad of Hypoparathyroidism (H), nerve Deafness (D) and/or Renal disease (R). Variable clinical features include hypogonadotrophic hypogonadism, polycystic ovaries, congenital heart disease, retinitis pigmentosa, and cognitive disability (Barakat et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374443">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1732975"><div><strong>Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1732975</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.">C5399980</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with hereditary distal renal tubular acidosis (dRTA) typically present in infancy with failure to thrive, although later presentations can occur, especially in individuals with autosomal dominant SLC4A1-dRTA. Initial clinical manifestations can also include emesis, polyuria, polydipsia, constipation, diarrhea, decreased appetite, and episodes of dehydration. Electrolyte manifestations include hyperchloremic non-anion gap metabolic acidosis and hypokalemia. Renal complications of dRTA include nephrocalcinosis, nephrolithiasis, medullary cysts, and impaired renal function. Additional manifestations include bone demineralization (rickets, osteomalacia), growth deficiency, sensorineural hearing loss (in ATP6V0A4-, ATP6V1B1-, and FOXI1-dRTA), and hereditary hemolytic anemia (in some individuals with SLC4A1-dRTA).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1732975">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1771439"><div><strong>Renal tubular acidosis, distal, 4, with hemolytic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1771439</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.">C5436235</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with hereditary distal renal tubular acidosis (dRTA) typically present in infancy with failure to thrive, although later presentations can occur, especially in individuals with autosomal dominant SLC4A1-dRTA. Initial clinical manifestations can also include emesis, polyuria, polydipsia, constipation, diarrhea, decreased appetite, and episodes of dehydration. Electrolyte manifestations include hyperchloremic non-anion gap metabolic acidosis and hypokalemia. Renal complications of dRTA include nephrocalcinosis, nephrolithiasis, medullary cysts, and impaired renal function. Additional manifestations include bone demineralization (rickets, osteomalacia), growth deficiency, sensorineural hearing loss (in ATP6V0A4-, ATP6V1B1-, and FOXI1-dRTA), and hereditary hemolytic anemia (in some individuals with SLC4A1-dRTA).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1771439">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_963849"><div><strong>Autosomal dominant distal renal tubular acidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>963849</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN280572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with hereditary distal renal tubular acidosis (dRTA) typically present in infancy with failure to thrive, although later presentations can occur, especially in individuals with autosomal dominant SLC4A1-dRTA. Initial clinical manifestations can also include emesis, polyuria, polydipsia, constipation, diarrhea, decreased appetite, and episodes of dehydration. Electrolyte manifestations include hyperchloremic non-anion gap metabolic acidosis and hypokalemia. Renal complications of dRTA include nephrocalcinosis, nephrolithiasis, medullary cysts, and impaired renal function. Additional manifestations include bone demineralization (rickets, osteomalacia), growth deficiency, sensorineural hearing loss (in ATP6V0A4-, ATP6V1B1-, and FOXI1-dRTA), and hereditary hemolytic anemia (in some individuals with SLC4A1-dRTA).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/963849">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_963849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant distal renal tubular acidosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374443" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoparathyroidism, deafness, renal disease syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_91042" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteopetrosis with renal tubular acidosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120640" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary hypomagnesemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1732975" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1771439" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal tubular acidosis, distal, 4, with hemolytic anemia</a></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/33770395">Distal renal tubular acidosis: a systematic approach from diagnosis to treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giglio S,
|
||
Montini G,
|
||
Trepiccione F,
|
||
Gambaro G,
|
||
Emma F</span><br />
|
||
<span class="medgenPMjournal">J Nephrol</span>
|
||
2021 Dec;34(6):2073-2083.
|
||
Epub 2021 Mar 26
|
||
doi: 10.1007/s40620-021-01032-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33770395" target="_blank">33770395</a><a href="/pmc/articles/PMC8610947" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33367987">Renal Tubular Acidosis and Management Strategies: A Narrative Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palmer BF,
|
||
Kelepouris E,
|
||
Clegg DJ</span><br />
|
||
<span class="medgenPMjournal">Adv Ther</span>
|
||
2021 Feb;38(2):949-968.
|
||
Epub 2020 Dec 26
|
||
doi: 10.1007/s12325-020-01587-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33367987" target="_blank">33367987</a><a href="/pmc/articles/PMC7889554" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19377223">Diagnosis of hypokalemia: a problem-solving approach to clinical cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Assadi F</span><br />
|
||
<span class="medgenPMjournal">Iran J Kidney Dis</span>
|
||
2008 Jul;2(3):115-22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19377223" target="_blank">19377223</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22distal%20renal%20tubular%20acidosis%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 (21)</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/37016093">The pathophysiology of distal renal tubular acidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wagner CA,
|
||
Unwin R,
|
||
Lopez-Garcia SC,
|
||
Kleta R,
|
||
Bockenhauer D,
|
||
Walsh S</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Nephrol</span>
|
||
2023 Jun;19(6):384-400.
|
||
Epub 2023 Apr 4
|
||
doi: 10.1038/s41581-023-00699-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37016093" target="_blank">37016093</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33770395">Distal renal tubular acidosis: a systematic approach from diagnosis to treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giglio S,
|
||
Montini G,
|
||
Trepiccione F,
|
||
Gambaro G,
|
||
Emma F</span><br />
|
||
<span class="medgenPMjournal">J Nephrol</span>
|
||
2021 Dec;34(6):2073-2083.
|
||
Epub 2021 Mar 26
|
||
doi: 10.1007/s40620-021-01032-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33770395" target="_blank">33770395</a><a href="/pmc/articles/PMC8610947" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30454739">Renal Tubular Acidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alexander RT,
|
||
Bitzan M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2019 Feb;66(1):135-157.
|
||
doi: 10.1016/j.pcl.2018.08.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30454739" target="_blank">30454739</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28092281">Renal tubular acidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santos F,
|
||
Gil-Peña H,
|
||
Alvarez-Alvarez S</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2017 Apr;29(2):206-210.
|
||
doi: 10.1097/MOP.0000000000000460.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28092281" target="_blank">28092281</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26070939">Renal involvement in primary Sjögren's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Evans R,
|
||
Zdebik A,
|
||
Ciurtin C,
|
||
Walsh SB</span><br />
|
||
<span class="medgenPMjournal">Rheumatology (Oxford)</span>
|
||
2015 Sep;54(9):1541-8.
|
||
Epub 2015 Jun 11
|
||
doi: 10.1093/rheumatology/kev223.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26070939" target="_blank">26070939</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Distal%20renal%20tubular%20acidosis%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 (192)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35063968">Electrolyte and Acid-Base Disorders Associated with Cancer Immunotherapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uppal NN,
|
||
Workeneh BT,
|
||
Rondon-Berrios H,
|
||
Jhaveri KD</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2022 Jun;17(6):922-933.
|
||
Epub 2022 Jan 21
|
||
doi: 10.2215/CJN.14671121.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35063968" target="_blank">35063968</a><a href="/pmc/articles/PMC9269647" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
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|
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<div class="nl"><a target="_blank" href="/pubmed/33367987">Renal Tubular Acidosis and Management Strategies: A Narrative Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Palmer BF,
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Kelepouris E,
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<span class="bold">PMID: </span><a href="/pubmed/33367987" target="_blank">33367987</a><a href="/pmc/articles/PMC7889554" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/31347344" target="_blank">31347344</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30454739">Renal Tubular Acidosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Alexander RT,
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Unwin R,
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Workeneh BT,
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<div class="nl"><a target="_blank" href="/pubmed/31347344">Hyperchloremic normal gap metabolic acidosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Palmer BF,
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Clegg DJ</span><br />
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2019 Dec;44(4):363-377.
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Epub 2019 Jul 24
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<div class="nl"><a target="_blank" href="/pubmed/30454739">Renal Tubular Acidosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Alexander RT,
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Bitzan M</span><br />
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2019 Feb;66(1):135-157.
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<span class="bold">PMID: </span><a href="/pubmed/30454739" target="_blank">30454739</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Laing CM,
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Roberts R,
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<div class="nl"><a target="_blank" href="/pubmed/35357683">Improved growth of a child with primary distal renal tubular acidosis after switching from a conventional alkalizing treatment to a new prolonged-release formulation containing potassium citrate and potassium bicarbonate: lessons for the clinical nephrologist.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35063968">Electrolyte and Acid-Base Disorders Associated with Cancer Immunotherapy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Uppal NN,
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Workeneh BT,
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Rondon-Berrios H,
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Jhaveri KD</span><br />
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Epub 2022 Jan 21
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doi: 10.2215/CJN.14671121.
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<span class="bold">PMID: </span><a href="/pubmed/35063968" target="_blank">35063968</a><a href="/pmc/articles/PMC9269647" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
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<div class="nl"><a target="_blank" href="/pubmed/33367987">Renal Tubular Acidosis and Management Strategies: A Narrative Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Palmer BF,
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Kelepouris E,
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Clegg DJ</span><br />
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2021 Feb;38(2):949-968.
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Epub 2020 Dec 26
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doi: 10.1007/s12325-020-01587-5.
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<span class="bold">PMID: </span><a href="/pubmed/33367987" target="_blank">33367987</a><a href="/pmc/articles/PMC7889554" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30773598">Treatment and long-term outcome in primary distal renal tubular acidosis.</a></div>
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Sinha R,
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Bockenhauer D</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/29134448">Hyperammonemia associated with distal renal tubular acidosis or urinary tract infection: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Clericetti CM,
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Milani GP,
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Lava SAG,
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Bianchetti MG,
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Simonetti GD,
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Giannini O</span><br />
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<span class="medgenPMjournal">Pediatr Nephrol</span>
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<span class="bold">PMID: </span><a href="/pubmed/29134448" target="_blank">29134448</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Distal%20renal%20tubular%20acidosis%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 (131)</a></div></div>
|
||
</div>
|
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|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/31439490">Secondary hypokalemic paralysis with bulbar weakness and reversible electrophysiologic abnormalities: A case report and systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ignacio KHD,
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Bagnas MAC,
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Espiritu AI,
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<span class="bold">PMID: </span><a href="/pubmed/31439490" target="_blank">31439490</a></div>
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||
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<div class="nl"><a target="_blank" href="/pubmed/29134448">Hyperammonemia associated with distal renal tubular acidosis or urinary tract infection: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clericetti CM,
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||
Milani GP,
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||
Lava SAG,
|
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Bianchetti MG,
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||
Simonetti GD,
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Giannini O</span><br />
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<span class="medgenPMjournal">Pediatr Nephrol</span>
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2018 Mar;33(3):485-491.
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||
Epub 2017 Nov 13
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||
doi: 10.1007/s00467-017-3829-7.
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||
<span class="bold">PMID: </span><a href="/pubmed/29134448" target="_blank">29134448</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20033223">Hypokalemic rhabdomyolysis in congenital tubular disorders: a case series and a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">von Vigier RO,
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Ortisi MT,
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La Manna A,
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Bianchetti MG,
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Bettinelli A</span><br />
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<span class="medgenPMjournal">Pediatr Nephrol</span>
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<span class="bold">PMID: </span><a href="/pubmed/20033223" target="_blank">20033223</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Distal%20renal%20tubular%20acidosis%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 (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
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|
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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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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1704380%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1704380%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1704380%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS179800" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=18" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Distal%20renal%20tubular%20acidosis" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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