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<meta name="keywords" content="C0004775, aldosteronism with hyperplasia of the adrenal cortex, bartter disease, bartter syndrome, bartter syndrome with hypercalciuria and nephrocalcinosis, bartter's disease, bartter's syndrome, bartters disease, bartters syndrome, disease or syndrome, hypokalemic alkalosis, hypokalemic alkalosis with hypercalciuria, juxtaglomerular hyperplasia with secondary aldosteronism, potassium wasting, renal tubular normotensive hypokalemic alkalosis with hypercalciuria, salt-losing tubular disorder, henle's loop type, salt-wasting tubulopathy, henle's loop type, syndrome, bartter, syndrome, bartter's, 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="Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body.\n\nTwo major forms of Bartter syndrome are distinguished by their age of onset and severity. One form begins before birth (antenatal) and is often life-threatening. The other form, often called the classical form, begins in early childhood and tends to be less severe. Once the genetic causes of Bartter syndrome were identified, researchers also split the disorder into different types based on the genes involved. Types I, II, and IV have the features of antenatal Bartter syndrome. Because type IV is also associated with hearing loss, it is sometimes called antenatal Bartter syndrome with sensorineural deafness. Type III usually has the features of classical Bartter syndrome.\n\nIn some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amniotic fluid). Polyhydramnios increases the risk of premature birth.\n\nBeginning in infancy, affected individuals often fail to grow and gain weight at the expected rate (failure to thrive). They lose excess amounts of salt (sodium chloride) in their urine, which leads to dehydration, constipation, and increased urine production (polyuria). In addition, large amounts of calcium are lost through the urine (hypercalciuria), which can cause weakening of the bones (osteopenia). Some of the calcium is deposited in the kidneys as they are concentrating urine, leading to hardening of the kidney tissue (nephrocalcinosis). Bartter syndrome is also characterized by low levels of potassium in the blood (hypokalemia), which can result in muscle weakness, cramping, and fatigue. Rarely, affected children develop hearing loss caused by abnormalities in the inner ear (sensorineural deafness)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=2172
ConceptID=C0004775
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Bartter syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2172</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)&#10;Click for more information."><span class="highlight" style="background-color:">C0004775</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>Bartter's syndrome; Potassium wasting</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Bartter's syndrome (707742001); Bartter syndrome (707742001); Bartter syndrome with hypercalciuria and nephrocalcinosis (707742001)</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)&#10;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)&#10;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_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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)&#10;Click for more information.">C1845977</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">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_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
Gene(s) associated with related conditions. For conditions<br />
in a hierarchy, the parent condition will list the genes<br />
associated with the children conditions.</div></td>
<td><a target="_blank" href="/gene/10916">MAGED2</a>, <a target="_blank" href="/gene/7809">BSND</a>, <a target="_blank" href="/gene/6557">SLC12A1</a>, <a target="_blank" href="/gene/3758">KCNJ1</a>, <a target="_blank" href="/gene/1188">CLCNKB</a>, <a target="_blank" href="/gene/1187">CLCNKA</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0015231" target="_blank">MONDO:0015231</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
<td><a href="https://omim.org/phenotypicSeries/PS601678" target="_blank">PS601678</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&amp;Expert=112">ORPHA112</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>
<div class="portlet mgSection" id="ID_100">
<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">Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body.<br /><br />Two major forms of Bartter syndrome are distinguished by their age of onset and severity. One form begins before birth (antenatal) and is often life-threatening. The other form, often called the classical form, begins in early childhood and tends to be less severe. Once the genetic causes of Bartter syndrome were identified, researchers also split the disorder into different types based on the genes involved. Types I, II, and IV have the features of antenatal Bartter syndrome. Because type IV is also associated with hearing loss, it is sometimes called antenatal Bartter syndrome with sensorineural deafness. Type III usually has the features of classical Bartter syndrome.<br /><br />In some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amniotic fluid). Polyhydramnios increases the risk of premature birth.<br /><br />Beginning in infancy, affected individuals often fail to grow and gain weight at the expected rate (failure to thrive). They lose excess amounts of salt (sodium chloride) in their urine, which leads to dehydration, constipation, and increased urine production (polyuria). In addition, large amounts of calcium are lost through the urine (hypercalciuria), which can cause weakening of the bones (osteopenia). Some of the calcium is deposited in the kidneys as they are concentrating urine, leading to hardening of the kidney tissue (nephrocalcinosis). Bartter syndrome is also characterized by low levels of potassium in the blood (hypokalemia), which can result in muscle weakness, cramping, and fatigue. Rarely, affected children develop hearing loss caused by abnormalities in the inner ear (sensorineural deafness). [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<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><li><a href="#tabORDO">Orphanet</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=C0004775[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=2172">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0004775[DISCUI]&amp;test_type=Research&amp;redirect=true" ref="ncbi_uid=2172">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=2172" ref="ncbi_uid=2172">V</a></span></span><span class="TLline">Bartter syndrome</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN239220[DISCUI]&amp;test_type=Clinical&amp;redirect=true" ref="ncbi_uid=893350">C</a></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 Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=893350" ref="ncbi_uid=893350">V</a></span></span><span class="TLline"><a href="/medgen/893350" ref="tree=GTR&amp;ncbi_uid=893350&amp;link_uid=893350" title="View MedGen record for 'Antenatal Bartter syndrome'">Antenatal Bartter syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866495[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=355727">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355727" target="_blank" href="/omim/600839">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&amp;from_uid=355727" ref="ncbi_uid=355727">V</a></span></span><span class="TLline"><a href="/medgen/355727" ref="tree=GTR&amp;ncbi_uid=355727&amp;link_uid=355727" title="View MedGen record for 'Bartter disease type 1'">Bartter disease type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1855849[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=343428">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343428" target="_blank" href="/omim/241200">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&amp;from_uid=343428" ref="ncbi_uid=343428">V</a></span></span><span class="TLline"><a href="/medgen/343428" ref="tree=GTR&amp;ncbi_uid=343428&amp;link_uid=343428" title="View MedGen record for 'Bartter disease type 2'">Bartter disease type 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4310820[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=934787">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934787" target="_blank" href="/omim/300470">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&amp;from_uid=934787" ref="ncbi_uid=934787">V</a></span></span><span class="TLline"><a href="/medgen/934787" ref="tree=GTR&amp;ncbi_uid=934787&amp;link_uid=934787" title="View MedGen record for 'Bartter disease type 5'">Bartter disease type 5</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1846343[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=335399">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335399" target="_blank" href="/omim/602023">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&amp;from_uid=335399" ref="ncbi_uid=335399">V</a></span></span><span class="TLline"><a href="/medgen/335399" ref="tree=GTR&amp;ncbi_uid=335399&amp;link_uid=335399" title="View MedGen record for 'Bartter disease type 3'">Bartter disease type 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865270[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=355430">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355430" target="_blank" href="/omim/602522">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&amp;from_uid=355430" ref="ncbi_uid=355430">V</a></span></span><span class="TLline"><a href="/medgen/355430" ref="tree=GTR&amp;ncbi_uid=355430&amp;link_uid=355430" title="View MedGen record for 'Bartter disease type 4A'">Bartter disease type 4A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4310805[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=934772">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934772" target="_blank" href="/omim/613090">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&amp;from_uid=934772" ref="ncbi_uid=934772">V</a></span></span><span class="TLline"><a href="/medgen/934772" ref="tree=GTR&amp;ncbi_uid=934772&amp;link_uid=934772" title="View MedGen record for 'Bartter disease type 4B'">Bartter disease type 4B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3715128[DISCUI]&amp;test_type=Clinical&amp;redirect=true" ref="ncbi_uid=811594">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=811594" target="_blank" href="/omim/601198">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&amp;from_uid=811594" ref="ncbi_uid=811594">V</a></span></span><span class="TLline"><a href="/medgen/811594" ref="tree=GTR&amp;ncbi_uid=811594&amp;link_uid=811594" title="View MedGen record for 'Bartter syndrome with hypocalcemia'">Bartter syndrome with hypocalcemia</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/893021" ref="tree=MeSH" title="MedGen record for Abnormality of the endocrine system">Abnormality of the endocrine system</a></span><ul><li><span class="TLline"><a href="/medgen/867421" ref="tree=MeSH" title="MedGen record for Abnormality of renin-angiotensin system">Abnormality of renin-angiotensin system</a></span><ul><li><span class="TLline"><a href="/medgen/808216" ref="tree=MeSH" title="MedGen record for Abnormal circulating aldosterone concentration">Abnormal circulating aldosterone concentration</a></span><ul><li><span class="TLline"><a href="/medgen/6960" ref="tree=MeSH" title="MedGen record for Increased circulating aldosterone concentration">Increased circulating aldosterone concentration</a></span><ul><li><span class="matched_ds">Bartter syndrome</span><ul><li><span class="TLline"><a href="/medgen/893350" ref="tree=MeSH" title="MedGen record for Antenatal Bartter syndrome">Antenatal Bartter syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/355727" ref="tree=MeSH" title="MedGen record for Bartter disease type 1">Bartter disease type 1</a></span></li><li><span class="TLline"><a href="/medgen/343428" ref="tree=MeSH" title="MedGen record for Bartter disease type 2">Bartter disease type 2</a></span></li><li><span class="TLline"><a href="/medgen/934787" ref="tree=MeSH" title="MedGen record for Bartter disease type 5">Bartter disease type 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/335399" ref="tree=MeSH" title="MedGen record for Bartter disease type 3">Bartter disease type 3</a></span></li><li><span class="TLline"><a href="/medgen/355430" ref="tree=MeSH" title="MedGen record for Bartter disease type 4A">Bartter disease type 4A</a></span></li><li><span class="TLline"><a href="/medgen/934772" ref="tree=MeSH" title="MedGen record for Bartter disease type 4B">Bartter disease type 4B</a></span></li><li><span class="TLline"><a href="/medgen/824706" ref="tree=MeSH" title="MedGen record for Bartter syndrome type 4">Bartter syndrome type 4</a></span></li><li><span class="TLline"><a href="/medgen/811594" ref="tree=MeSH" title="MedGen record for Bartter syndrome with hypocalcemia">Bartter syndrome with hypocalcemia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&amp;data_id=156&amp;PatId=259&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Bartter syndrome</span> in Orphanet.</div></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/35525634">Metabolic Alkalosis Pathogenesis, Diagnosis, and Treatment: Core Curriculum 2022.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Do C,
Vasquez PC,
Soleimani M</span><br />
<span class="medgenPMjournal">Am J Kidney Dis</span>
2022 Oct;80(4):536-551.
Epub 2022 May 5
doi: 10.1053/j.ajkd.2021.12.016.
<span class="bold">PMID: </span><a href="/pubmed/35525634" target="_blank">35525634</a><a href="/pmc/articles/PMC10947768" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33509356">Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Konrad M,
Nijenhuis T,
Ariceta G,
Bertholet-Thomas A,
Calo LA,
Capasso G,
Emma F,
Schlingmann KP,
Singh M,
Trepiccione F,
Walsh SB,
Whitton K,
Vargas-Poussou R,
Bockenhauer D</span><br />
<span class="medgenPMjournal">Kidney Int</span>
2021 Feb;99(2):324-335.
doi: 10.1016/j.kint.2020.10.035.
<span class="bold">PMID: </span><a href="/pubmed/33509356" target="_blank">33509356</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=(%22bartter%20syndrome%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 (30)</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/33509356">Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Konrad M,
Nijenhuis T,
Ariceta G,
Bertholet-Thomas A,
Calo LA,
Capasso G,
Emma F,
Schlingmann KP,
Singh M,
Trepiccione F,
Walsh SB,
Whitton K,
Vargas-Poussou R,
Bockenhauer D</span><br />
<span class="medgenPMjournal">Kidney Int</span>
2021 Feb;99(2):324-335.
doi: 10.1016/j.kint.2020.10.035.
<span class="bold">PMID: </span><a href="/pubmed/33509356" target="_blank">33509356</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32488762">Bartter's syndrome: clinical findings, genetic causes and therapeutic approach.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mrad FCC,
Soares SBM,
de Menezes Silva LAW,
Dos Anjos Menezes PV,
Simões-E-Silva AC</span><br />
<span class="medgenPMjournal">World J Pediatr</span>
2021 Feb;17(1):31-39.
Epub 2020 Jun 1
doi: 10.1007/s12519-020-00370-4.
<span class="bold">PMID: </span><a href="/pubmed/32488762" target="_blank">32488762</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32533118">Genetics of kidney stone disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Howles SA,
Thakker RV</span><br />
<span class="medgenPMjournal">Nat Rev Urol</span>
2020 Jul;17(7):407-421.
Epub 2020 Jun 12
doi: 10.1038/s41585-020-0332-x.
<span class="bold">PMID: </span><a href="/pubmed/32533118" target="_blank">32533118</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28711074">Hereditary Renal Diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mehta L,
Jim B</span><br />
<span class="medgenPMjournal">Semin Nephrol</span>
2017 Jul;37(4):354-361.
doi: 10.1016/j.semnephrol.2017.05.007.
<span class="bold">PMID: </span><a href="/pubmed/28711074" target="_blank">28711074</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25296721">Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Halbritter J,
Baum M,
Hynes AM,
Rice SJ,
Thwaites DT,
Gucev ZS,
Fisher B,
Spaneas L,
Porath JD,
Braun DA,
Wassner AJ,
Nelson CP,
Tasic V,
Sayer JA,
Hildebrandt F</span><br />
<span class="medgenPMjournal">J Am Soc Nephrol</span>
2015 Mar;26(3):543-51.
Epub 2014 Oct 8
doi: 10.1681/ASN.2014040388.
<span class="bold">PMID: </span><a href="/pubmed/25296721" target="_blank">25296721</a><a href="/pmc/articles/PMC4341487" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bartter%20syndrome%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 (200)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36100451">Bartter and Gitelman syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zieg J,
Doležel Z</span><br />
<span class="medgenPMjournal">Cas Lek Cesk</span>
2022 Summer;161(3-4):131-134.
<span class="bold">PMID: </span><a href="/pubmed/36100451" target="_blank">36100451</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32488762">Bartter's syndrome: clinical findings, genetic causes and therapeutic approach.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mrad FCC,
Soares SBM,
de Menezes Silva LAW,
Dos Anjos Menezes PV,
Simões-E-Silva AC</span><br />
<span class="medgenPMjournal">World J Pediatr</span>
2021 Feb;17(1):31-39.
Epub 2020 Jun 1
doi: 10.1007/s12519-020-00370-4.
<span class="bold">PMID: </span><a href="/pubmed/32488762" target="_blank">32488762</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/19056867">Large-scale proteomics and phosphoproteomics of urinary exosomes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gonzales PA,
Pisitkun T,
Hoffert JD,
Tchapyjnikov D,
Star RA,
Kleta R,
Wang NS,
Knepper MA</span><br />
<span class="medgenPMjournal">J Am Soc Nephrol</span>
2009 Feb;20(2):363-79.
Epub 2008 Dec 3
doi: 10.1681/ASN.2008040406.
<span class="bold">PMID: </span><a href="/pubmed/19056867" target="_blank">19056867</a><a href="/pmc/articles/PMC2637050" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7001260">Bartter's syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chan JC</span><br />
<span class="medgenPMjournal">Nephron</span>
1980;26(4):155-62.
doi: 10.1159/000181973.
<span class="bold">PMID: </span><a href="/pubmed/7001260" target="_blank">7001260</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bartter%20syndrome%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 (588)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/35525634">Metabolic Alkalosis Pathogenesis, Diagnosis, and Treatment: Core Curriculum 2022.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Do C,
Vasquez PC,
Soleimani M</span><br />
<span class="medgenPMjournal">Am J Kidney Dis</span>
2022 Oct;80(4):536-551.
Epub 2022 May 5
doi: 10.1053/j.ajkd.2021.12.016.
<span class="bold">PMID: </span><a href="/pubmed/35525634" target="_blank">35525634</a><a href="/pmc/articles/PMC10947768" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34768847">Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nuñez-Gonzalez L,
Carrera N,
Garcia-Gonzalez MA</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2021 Oct 22;22(21)
doi: 10.3390/ijms222111414.
<span class="bold">PMID: </span><a href="/pubmed/34768847" target="_blank">34768847</a><a href="/pmc/articles/PMC8584233" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24906263">Antenatal Bartter syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Afzal M,
Khan EA,
Khan WA,
Anwar V,
Yaqoob A,
Rafiq S,
Azam S</span><br />
<span class="medgenPMjournal">J Coll Physicians Surg Pak</span>
2014 May;24 Suppl 2:S121-3.
<span class="bold">PMID: </span><a href="/pubmed/24906263" target="_blank">24906263</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19765870">Gentamicin-induced Bartter-like syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chen YS,
Fang HC,
Chou KJ,
Lee PT,
Hsu CY,
Huang WC,
Chung HM,
Chen CL</span><br />
<span class="medgenPMjournal">Am J Kidney Dis</span>
2009 Dec;54(6):1158-61.
Epub 2009 Sep 18
doi: 10.1053/j.ajkd.2009.07.016.
<span class="bold">PMID: </span><a href="/pubmed/19765870" target="_blank">19765870</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7001260">Bartter's syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chan JC</span><br />
<span class="medgenPMjournal">Nephron</span>
1980;26(4):155-62.
doi: 10.1159/000181973.
<span class="bold">PMID: </span><a href="/pubmed/7001260" target="_blank">7001260</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bartter%20syndrome%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 (318)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35628451">Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Palazzo V,
Raglianti V,
Landini S,
Cirillo L,
Errichiello C,
Buti E,
Artuso R,
Tiberi L,
Vergani D,
Dirupo E,
Romagnani P,
Mazzinghi B,
Becherucci F</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2022 May 18;23(10)
doi: 10.3390/ijms23105641.
<span class="bold">PMID: </span><a href="/pubmed/35628451" target="_blank">35628451</a><a href="/pmc/articles/PMC9144947" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28003083">Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Blanchard A,
Bockenhauer D,
Bolignano D,
Calò LA,
Cosyns E,
Devuyst O,
Ellison DH,
Karet Frankl FE,
Knoers NV,
Konrad M,
Lin SH,
Vargas-Poussou R</span><br />
<span class="medgenPMjournal">Kidney Int</span>
2017 Jan;91(1):24-33.
doi: 10.1016/j.kint.2016.09.046.
<span class="bold">PMID: </span><a href="/pubmed/28003083" target="_blank">28003083</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24906263">Antenatal Bartter syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Afzal M,
Khan EA,
Khan WA,
Anwar V,
Yaqoob A,
Rafiq S,
Azam S</span><br />
<span class="medgenPMjournal">J Coll Physicians Surg Pak</span>
2014 May;24 Suppl 2:S121-3.
<span class="bold">PMID: </span><a href="/pubmed/24906263" target="_blank">24906263</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16951440">Neonatal Bartter syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar PS,
Deenadayalan M,
Janakiraman L,
Vijayakumar M</span><br />
<span class="medgenPMjournal">Indian Pediatr</span>
2006 Aug;43(8):735-7.
<span class="bold">PMID: </span><a href="/pubmed/16951440" target="_blank">16951440</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7001260">Bartter's syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chan JC</span><br />
<span class="medgenPMjournal">Nephron</span>
1980;26(4):155-62.
doi: 10.1159/000181973.
<span class="bold">PMID: </span><a href="/pubmed/7001260" target="_blank">7001260</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bartter%20syndrome%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 (148)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/36305432">Phenotypic and genotypic characteristics of children with Bartter syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Güven S,
Gökçe İ,
Alavanda C,
Çiçek N,
Demirci EB,
Sak M,
Pul S,
Türkkan ÖN,
Yıldız N,
Ata P,
Alpay H</span><br />
<span class="medgenPMjournal">Turk J Pediatr</span>
2022;64(5):825-838.
doi: 10.24953/turkjped.2021.4697.
<span class="bold">PMID: </span><a href="/pubmed/36305432" target="_blank">36305432</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35858584">Gitelman's and Bartter's Syndromes: From Genetics to the Molecular Basis of Hypertension and More.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ravarotto V,
Bertoldi G,
Stefanelli LF,
Nalesso F,
Calò LA</span><br />
<span class="medgenPMjournal">Kidney Blood Press Res</span>
2022;47(9):556-564.
Epub 2022 Jul 20
doi: 10.1159/000526070.
<span class="bold">PMID: </span><a href="/pubmed/35858584" target="_blank">35858584</a><a href="/pmc/articles/PMC9677844" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29237739">Salt-Losing Tubulopathies in Children: What's New, What's Controversial?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kleta R,
Bockenhauer D</span><br />
<span class="medgenPMjournal">J Am Soc Nephrol</span>
2018 Mar;29(3):727-739.
Epub 2017 Dec 13
doi: 10.1681/ASN.2017060600.
<span class="bold">PMID: </span><a href="/pubmed/29237739" target="_blank">29237739</a><a href="/pmc/articles/PMC5827598" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10864591">From tonus to tonicity: physiology of CLC chloride channels.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Waldegger S,
Jentsch TJ</span><br />
<span class="medgenPMjournal">J Am Soc Nephrol</span>
2000 Jul;11(7):1331-1339.
doi: 10.1681/ASN.V1171331.
<span class="bold">PMID: </span><a href="/pubmed/10864591" target="_blank">10864591</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7023836">Measurement of urine electrolytes: clinical significance and methods.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Winter SD</span><br />
<span class="medgenPMjournal">Crit Rev Clin Lab Sci</span>
1981;14(3):163-87.
doi: 10.3109/10408368109105863.
<span class="bold">PMID: </span><a href="/pubmed/7023836" target="_blank">7023836</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bartter%20syndrome%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 (171)</a></div></div>
</div>
<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>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/39661032">Ectopic olfactory neuroblastoma is associated with increased frequency of syndrome of inappropriate antidiuretic hormone secretion and reduced disease control: Case series with systematic review and pooled analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Daloiso A,
Gaudioso P,
Vinciguerra A,
Turri-Zanoni M,
Testa G,
Cazzador D,
Lambertoni A,
Arosio AD,
Contro G,
Taboni S,
Rampinelli V,
Piazza C,
Bignami M,
Emanuelli E,
Battaglia P,
Bossi P,
Herman P,
Castelnuovo P,
Hanna EY,
Nicolai P,
Mattavelli D,
Ferrari M</span><br />
<span class="medgenPMjournal">Int Forum Allergy Rhinol</span>
2025 Jan;15(1):45-67.
Epub 2024 Dec 11
doi: 10.1002/alr.23502.
<span class="bold">PMID: </span><a href="/pubmed/39661032" target="_blank">39661032</a><a href="/pmc/articles/PMC11697229" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/39484850">CASRdb: A Publicly Accessible Comprehensive Database for Disease-Associated Calcium-Sensing Receptor Variants.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Charoenngam N,
Wattanachayakul P,
Mannstadt M</span><br />
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
2025 Jan 21;110(2):297-302.
doi: 10.1210/clinem/dgae769.
<span class="bold">PMID: </span><a href="/pubmed/39484850" target="_blank">39484850</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37763757">Bartter Syndrome: A Systematic Review of Case Reports and Case Series.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Qasba RK,
Bucharles ACF,
Piccoli MVF,
Sharma P,
Banga A,
Kamaraj B,
Nawaz FA,
Kumar HJ,
Happy MA,
Qasba RK,
Kogilathota Jagirdhar GS,
Essar MY,
Garg P,
Reddy ST,
Rama K,
Surani S,
Kashyap R</span><br />
<span class="medgenPMjournal">Medicina (Kaunas)</span>
2023 Sep 11;59(9)
doi: 10.3390/medicina59091638.
<span class="bold">PMID: </span><a href="/pubmed/37763757" target="_blank">37763757</a><a href="/pmc/articles/PMC10537044" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36882007">Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vaisbich MH,
Messa ACHL,
Rangel-Santos AC,
Ferreira JCOA,
Nunes FAMDF,
Watanabe A</span><br />
<span class="medgenPMjournal">Nephron</span>
2023;147(8):478-495.
Epub 2023 Mar 7
doi: 10.1159/000528557.
<span class="bold">PMID: </span><a href="/pubmed/36882007" target="_blank">36882007</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>
<div class="portlet_content ln"><span class="medgenPMauthor">von Vigier RO,
Ortisi MT,
La Manna A,
Bianchetti MG,
Bettinelli A</span><br />
<span class="medgenPMjournal">Pediatr Nephrol</span>
2010 May;25(5):861-6.
Epub 2009 Dec 22
doi: 10.1007/s00467-009-1388-2.
<span class="bold">PMID: </span><a href="/pubmed/20033223" target="_blank">20033223</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bartter%20syndrome%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 (5)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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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>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0004775%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (8)</a></li>
<li><a href="/gtr/tests?term=C0004775%5bDISCUI%5d&amp;filter=method%3A1%5F2" target="_blank">Enzyme assay (1)</a></li>
<li><a href="/gtr/tests?term=C0004775%5bDISCUI%5d&amp;test_type=Research" target="_blank">Research (1)</a></li>
<li><a href="/gtr/tests?term=C0004775%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (6)</a></li>
<li><a href="/gtr/tests?term=C0004775%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (15)</a></li>
<li><a href="/gtr/tests?term=C0004775%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0004775%5bDISCUI%5d" target="_blank">See all (18)</a></total></li>
</ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS601678" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=112" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Bartter%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22bartter%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Bartter%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Bartter%27s+Syndrome/750" target="_blank">Genetic Alliance</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Bartter%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/bartter-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/5893/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<h3>Reviews</h3>
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<a href="/pubmed/clinical?term=Bartter%20syndrome" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=1&amp;linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<li>
<a href="/pubmed?term=Bartter%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=2&amp;linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=2172" ref="log$=recordlinks">ClinVar</a>
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0004775[DISCUI]" ref="log$=recordlinks">GTR</a>
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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