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<title>
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Entry
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- #308990 - PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
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- OMIM
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<span class="h4">#308990</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/308990"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA NEPHROCALCINOSIS) OR (CLCN5)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=3719&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Dent disease </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12453&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Dent disease type 1 </a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9182" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=308990[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Dent disease</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93622" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Dent disease type 1</a></div>
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<span class="small">
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<div style="display: table-cell;">Animal Models</div>
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</a>
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</span>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111815" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/308990" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111815" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 1652, 93622<br />
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<strong>DO:</strong> 0111815<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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308990
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</span>
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</span>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
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</span>
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</h3>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
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|
Phenotype
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</th>
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<th>
|
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Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
|
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Gene/Locus
|
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</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/geneMap/X/293?start=-3&limit=10&highlight=293">
|
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Xp11.23
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/308990"> 308990 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
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|
|
</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
CLCN5
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300008"> 300008 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
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</tbody>
|
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</table>
|
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</div>
|
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</div>
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<div>
|
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|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/308990" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
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|
|
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|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/308990" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/308990" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Proximal renal tubule defect <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839603&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839603</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000114" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000114</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000114" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000114</a>]</span><br /> -
|
|
Nephrocalcinosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48638002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48638002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027709&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027709</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000121" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000121</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000121" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000121</a>]</span><br /> -
|
|
A subset of patients develop renal insufficiency with decreased creatinine clearance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839875&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839875</a>]</span><br /> -
|
|
Renal biopsy shows focal tubular atrophy (in 33%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839876&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839876</a>]</span><br /> -
|
|
Focal glomerulosclerosis (in 33%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236403004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236403004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25821008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25821008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017668&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017668</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000097</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000097</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Low-molecular-weight proteinuria <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839606&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839606</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003126</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003126</a>]</span><br /> -
|
|
Hypercalciuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71938000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71938000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R82.994" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R82.994</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020438&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020438</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002150" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002150</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002150" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002150</a>]</span><br /> -
|
|
Microscopic hematuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197940006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197940006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/599.72" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">599.72</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239937&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239937</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002907" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002907</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002907" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002907</a>]</span><br /> -
|
|
Glycosuria (less common) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45154002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45154002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017979&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017979</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003076</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003076</a>]</span><br /> -
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Aminoaciduria (less common) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35912001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35912001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0238621&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0238621</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003355</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003355</a>]</span><br /> -
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Hypophosphatemia (less common) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4996001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4996001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0595888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0595888</a>, <a href="https://bioportal.bioontology.org/search?q=C0085682&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085682</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002148" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002148</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002148" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002148</a>]</span><br />
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- Usually asymptomatic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866557&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866557</a>]</span><br /> -
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Slowly progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854494&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854494</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span><br /> -
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Part of 'Dent disease complex' (see <a href="/entry/300009">300009</a>)<br />
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- Caused by mutation in the chloride channel 5 gene (CLCN5, <a href="/entry/300008#0001">300008.0001</a>)<br />
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<p>A number sign (#) is used with this entry because of evidence that low molecular weight proteinuria with hypercalciura and nephrocalcinosis is caused by mutation in the chloride channel-5 gene (CLCN5; <a href="/entry/300008">300008</a>) on chromosome Xp11.</p>
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<p>Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrocalcinosis, a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (<a href="#11" class="mim-tip-reference" title="Scheinman, S. J. <strong>X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations.</strong> Kidney Int. 53: 3-17, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9452994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9452994</a>] [<a href="https://doi.org/10.1046/j.1523-1755.1998.00718.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9452994">Scheinman, 1998</a>; <a href="#3" class="mim-tip-reference" title="Gambaro, G., Vezzoli, G., Casari, G., Rampoldi, L., D'Angelo, A., Borghi, L. <strong>Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms.</strong> Am. J. Kidney Dis. 44: 963-986, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15558518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15558518</a>] [<a href="https://doi.org/10.1053/j.ajkd.2004.06.030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15558518">Gambaro et al., 2004</a>). For a general discussion of Dent disease, see <a href="/entry/300009">300009</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15558518+9452994" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#12" class="mim-tip-reference" title="Suzuki, Y., Okada, T., Higuchi, A., Mase, D., Kobayashi, O. <strong>Asymptomatic low molecular weight proteinuria: a report on 5 cases.</strong> Clin. Nephrol. 23: 249-254, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4006335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4006335</a>]" pmid="4006335">Suzuki et al. (1985)</a> identified 5 boys with asymptomatic proteinuria in a screening program of Japanese children. More than 50% of their urinary proteins were those with a molecular weight of less than 40 kD, defined by <a href="#12" class="mim-tip-reference" title="Suzuki, Y., Okada, T., Higuchi, A., Mase, D., Kobayashi, O. <strong>Asymptomatic low molecular weight proteinuria: a report on 5 cases.</strong> Clin. Nephrol. 23: 249-254, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4006335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4006335</a>]" pmid="4006335">Suzuki et al. (1985)</a> as low molecular weight (LMW) proteins, including lysozyme (<a href="/entry/153450">153450</a>) and beta-2-microglobulin (<a href="/entry/109700">109700</a>). Serum proteins with a molecular weight of less than 50 kD are freely filtered by the renal glomeruli, but the filtered proteins in normal persons are then almost completely reabsorbed at the proximal tubules. Thus, the patients appeared to have an impaired proximal tubular reabsorption of LMW proteins. Follow-up for 4 to 16 years found that 3 patients developed further evidence of tubular dysfunction, including glycosuria, hypophosphatemia, aminoaciduria, and increasing serum creatinine, indicating that it was a progressive disorder. In urine specimens from the patients reported by <a href="#12" class="mim-tip-reference" title="Suzuki, Y., Okada, T., Higuchi, A., Mase, D., Kobayashi, O. <strong>Asymptomatic low molecular weight proteinuria: a report on 5 cases.</strong> Clin. Nephrol. 23: 249-254, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4006335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4006335</a>]" pmid="4006335">Suzuki et al. (1985)</a>, <a href="#8" class="mim-tip-reference" title="Murakami, T., Kawakami, H., Matsuyama, S., Terashima, T., Karashima, S., Hattori, S. <strong>Asymptomatic low molecular weight proteinuria: studies in five patients.</strong> Clin. Nephrol. 28: 93-98, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3308234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3308234</a>]" pmid="3308234">Murakami et al. (1987)</a> also detected alpha-1-acid glycoprotein (orosomucoid; <a href="/entry/138600">138600</a>), alpha-1-microglobulin (<a href="/entry/176870">176870</a>), and retinol-binding protein (<a href="/entry/180250">180250</a>), all of which have low molecular weights. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3308234+4006335" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Murakami, T., Kawakami, H. <strong>The clinical significance of asymptomatic low molecular weight proteinuria detected on routine screening of children in Japan: a survey of 53 patients.</strong> Clin. Nephrol. 33: 12-19, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1689232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1689232</a>]" pmid="1689232">Murakami and Kawakami (1990)</a> reported a slight tendency toward shortening stature with increasing age in affected children. Renal biopsies showed focal changes, including focal glomerulosclerosis and focal tubular atrophy, in approximately one-third of patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1689232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In studying first-degree relatives of 8 male patients with asymptomatic LMW proteinuria in 6 families, <a href="#6" class="mim-tip-reference" title="Kawakami, H., Murakami, T., Matsuyama, S. <strong>Frequency of elevated urinary beta-2-microglobulin levels in relatives of patients with asymptomatic low molecular weight proteinuria.</strong> Pediat. Nephrol. 5: 277-278, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1867978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1867978</a>] [<a href="https://doi.org/10.1007/BF00867474" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1867978">Kawakami et al. (1991)</a> found elevated urinary levels of beta-2-microglobulin in 2 of 6 fathers and 2 of 6 mothers and in 4 of 12 other first-degree relatives. The authors concluded that the increased frequency in fathers argued against X-linked inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1867978" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Geary, D. F., Dillon, M. J., Gammon, K., Barratt, T. M. <strong>Tubular proteinuria in children without other defects of renal function.</strong> Nephron 40: 329-331, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4010847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4010847</a>] [<a href="https://doi.org/10.1159/000183487" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4010847">Geary et al. (1985)</a> described 3 patients in England, 2 boys and a girl, with possible asymptomatic LMW proteinuria, indicating that the disorder was not confined to Japan. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4010847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Furuse, A., Futagoishi, Y., Karashima, S., Hattori, S., Matsuda, I. <strong>Familial progressive renal tubulopathy.</strong> Clin. Nephrol. 37: 192-197, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1582058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1582058</a>]" pmid="1582058">Furuse et al. (1992)</a> described 6 male patients with what they referred to as familial progressive renal tubulopathy but recognized as identical to familial low molecular weight proteinuria. The 6 patients belonged to 2 families in a single kindred: the propositus, his father, a paternal first cousin, 2 paternal uncles, and a maternal uncle. X-linked inheritance was thought to be most likely, but the possibility of autosomal dominant inheritance remained because of the occurrence of abnormality on both sides of the family. <a href="#2" class="mim-tip-reference" title="Furuse, A., Futagoishi, Y., Karashima, S., Hattori, S., Matsuda, I. <strong>Familial progressive renal tubulopathy.</strong> Clin. Nephrol. 37: 192-197, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1582058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1582058</a>]" pmid="1582058">Furuse et al. (1992)</a> suggested that the disorder may be progressive since older subjects showed more severe tubular dysfunction. All 6 had aminoaciduria and hypercalciuria, whereas glycosuria was present in 2 and phosphaturia in 4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1582058" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Igarashi, T., Hayakawa, H., Shiraga, H., Kawato, H., Yan, K., Kawaguchi, H., Yamanake, T., Tsuchida, S., Akagi, K. <strong>Hypercalciuria and nephrocalcinosis in patients with idiopathic low molecular weight proteinuria in Japan: is the disease identical to Dent's disease in the United Kingdom?</strong> Nephron. 69: 242-247, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7753256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7753256</a>] [<a href="https://doi.org/10.1159/000188464" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7753256">Igarashi et al. (1995)</a> found that patients with low molecular weight proteinuria tended to have hypercalciuric nephrocalcinosis without rickets or renal failure. Some children additionally demonstrated hematuria, glycosuria, amino aciduria, impaired urinary concentrating ability, and a mild decrease in creatinine clearance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7753256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 4 unrelated Japanese kindreds with LMW proteinuria, <a href="#7" class="mim-tip-reference" title="Lloyd, S. E., Pearce, S. H. S., Gunther, W., Kawaguchi, H., Igarashi, T., Jentsch, T. J., Thakker, R. V. <strong>Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).</strong> J. Clin. Invest. 99: 967-974, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9062355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9062355</a>] [<a href="https://doi.org/10.1172/JCI119262" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9062355">Lloyd et al. (1997)</a> identified 4 different mutations in the CLCN5 gene (<a href="/entry/300008#0001">300008.0001</a> and <a href="/entry/300008#0008">300008.0008</a>-<a href="/entry/300008#0010">300008.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9062355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Nakazato, H., Hattori, S., Furuse, A., Kawano, T., Karashima, S., Tsuruta, M., Yoshimuta, J., Endo, F., Matsuda, I. <strong>Mutations in the CLCN5 gene in Japanese patients with familial idiopathic low-molecular-weight proteinuria.</strong> Kidney Int. 52: 895-900, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9328927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9328927</a>] [<a href="https://doi.org/10.1038/ki.1997.410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9328927">Nakazato et al. (1997)</a> identified mutations in the CLCN5 gene in affected members of 2 Japanese families with low molecular weight proteinuria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9328927" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Akuta, N., Lloyd, S. E., Igarashi, T., Shiraga, H., Matsuyama, T., Yokoro, S., Cox, J. P. D., Thakker, R. V. <strong>Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis.</strong> Kidney Int. 52: 911-916, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9328929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9328929</a>] [<a href="https://doi.org/10.1038/ki.1997.412" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9328929">Akuta et al. (1997)</a> identified mutations in the CLCN5 gene in 7 of 10 unrelated Japanese patients with low molecular weight proteinuria, hypercalciuria, and nephrocalcinosis. They estimated that over 70% of Japanese patients with the disorder have mutations in the CLCN5 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9328929" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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Akuta, N., Lloyd, S. E., Igarashi, T., Shiraga, H., Matsuyama, T., Yokoro, S., Cox, J. P. D., Thakker, R. V.
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<strong>Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis.</strong>
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Kidney Int. 52: 911-916, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9328929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9328929</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9328929" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ki.1997.412" target="_blank">Full Text</a>]
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<a id="Furuse1992" class="mim-anchor"></a>
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Furuse, A., Futagoishi, Y., Karashima, S., Hattori, S., Matsuda, I.
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<strong>Familial progressive renal tubulopathy.</strong>
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Clin. Nephrol. 37: 192-197, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1582058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1582058</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1582058" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Gambaro, G., Vezzoli, G., Casari, G., Rampoldi, L., D'Angelo, A., Borghi, L.
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<strong>Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms.</strong>
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Am. J. Kidney Dis. 44: 963-986, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15558518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15558518</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15558518" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1053/j.ajkd.2004.06.030" target="_blank">Full Text</a>]
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Geary, D. F., Dillon, M. J., Gammon, K., Barratt, T. M.
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<strong>Tubular proteinuria in children without other defects of renal function.</strong>
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Nephron 40: 329-331, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4010847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4010847</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4010847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000183487" target="_blank">Full Text</a>]
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Igarashi, T., Hayakawa, H., Shiraga, H., Kawato, H., Yan, K., Kawaguchi, H., Yamanake, T., Tsuchida, S., Akagi, K.
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<strong>Hypercalciuria and nephrocalcinosis in patients with idiopathic low molecular weight proteinuria in Japan: is the disease identical to Dent's disease in the United Kingdom?</strong>
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Nephron. 69: 242-247, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7753256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7753256</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7753256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000188464" target="_blank">Full Text</a>]
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Kawakami, H., Murakami, T., Matsuyama, S.
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<strong>Frequency of elevated urinary beta-2-microglobulin levels in relatives of patients with asymptomatic low molecular weight proteinuria.</strong>
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Pediat. Nephrol. 5: 277-278, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1867978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1867978</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1867978" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00867474" target="_blank">Full Text</a>]
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Lloyd, S. E., Pearce, S. H. S., Gunther, W., Kawaguchi, H., Igarashi, T., Jentsch, T. J., Thakker, R. V.
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<strong>Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).</strong>
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J. Clin. Invest. 99: 967-974, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9062355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9062355</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9062355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI119262" target="_blank">Full Text</a>]
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Murakami, T., Kawakami, H., Matsuyama, S., Terashima, T., Karashima, S., Hattori, S.
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<strong>Asymptomatic low molecular weight proteinuria: studies in five patients.</strong>
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Clin. Nephrol. 28: 93-98, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3308234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3308234</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3308234" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Murakami, T., Kawakami, H.
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<strong>The clinical significance of asymptomatic low molecular weight proteinuria detected on routine screening of children in Japan: a survey of 53 patients.</strong>
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Clin. Nephrol. 33: 12-19, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1689232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1689232</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1689232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Nakazato, H., Hattori, S., Furuse, A., Kawano, T., Karashima, S., Tsuruta, M., Yoshimuta, J., Endo, F., Matsuda, I.
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<strong>Mutations in the CLCN5 gene in Japanese patients with familial idiopathic low-molecular-weight proteinuria.</strong>
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Kidney Int. 52: 895-900, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9328927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9328927</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9328927" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ki.1997.410" target="_blank">Full Text</a>]
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Scheinman, S. J.
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<strong>X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations.</strong>
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Kidney Int. 53: 3-17, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9452994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9452994</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9452994" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.1523-1755.1998.00718.x" target="_blank">Full Text</a>]
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Suzuki, Y., Okada, T., Higuchi, A., Mase, D., Kobayashi, O.
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<strong>Asymptomatic low molecular weight proteinuria: a report on 5 cases.</strong>
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Clin. Nephrol. 23: 249-254, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4006335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4006335</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4006335" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cassandra L. Kniffin - updated : 10/13/2005
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Cassandra L. Kniffin - reorganized : 9/19/2005<br>Cassandra L. Kniffin - updated : 9/6/2005
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Victor A. McKusick : 9/18/1991
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carol : 06/22/2021
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wwang : 10/24/2005<br>ckniffin : 10/13/2005<br>carol : 9/19/2005<br>ckniffin : 9/6/2005<br>terry : 4/21/2005<br>kayiaros : 7/13/1999<br>carol : 5/27/1999<br>alopez : 7/8/1997<br>terry : 4/15/1996<br>mimadm : 2/27/1994<br>carol : 7/17/1992<br>supermim : 3/17/1992<br>carol : 10/15/1991<br>carol : 10/7/1991<br>carol : 9/19/1991
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<strong>#</strong> 308990
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PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
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<strong>ORPHA:</strong> 1652, 93622;
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<strong>DO:</strong> 0111815;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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Xp11.23
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Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis
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308990
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X-linked recessive
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<span class="mim-font">
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3
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CLCN5
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300008
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<p>A number sign (#) is used with this entry because of evidence that low molecular weight proteinuria with hypercalciura and nephrocalcinosis is caused by mutation in the chloride channel-5 gene (CLCN5; 300008) on chromosome Xp11.</p>
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<strong>Description</strong>
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<p>Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrocalcinosis, a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009. </p>
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<strong>Clinical Features</strong>
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<p>Suzuki et al. (1985) identified 5 boys with asymptomatic proteinuria in a screening program of Japanese children. More than 50% of their urinary proteins were those with a molecular weight of less than 40 kD, defined by Suzuki et al. (1985) as low molecular weight (LMW) proteins, including lysozyme (153450) and beta-2-microglobulin (109700). Serum proteins with a molecular weight of less than 50 kD are freely filtered by the renal glomeruli, but the filtered proteins in normal persons are then almost completely reabsorbed at the proximal tubules. Thus, the patients appeared to have an impaired proximal tubular reabsorption of LMW proteins. Follow-up for 4 to 16 years found that 3 patients developed further evidence of tubular dysfunction, including glycosuria, hypophosphatemia, aminoaciduria, and increasing serum creatinine, indicating that it was a progressive disorder. In urine specimens from the patients reported by Suzuki et al. (1985), Murakami et al. (1987) also detected alpha-1-acid glycoprotein (orosomucoid; 138600), alpha-1-microglobulin (176870), and retinol-binding protein (180250), all of which have low molecular weights. </p><p>Murakami and Kawakami (1990) reported a slight tendency toward shortening stature with increasing age in affected children. Renal biopsies showed focal changes, including focal glomerulosclerosis and focal tubular atrophy, in approximately one-third of patients. </p><p>In studying first-degree relatives of 8 male patients with asymptomatic LMW proteinuria in 6 families, Kawakami et al. (1991) found elevated urinary levels of beta-2-microglobulin in 2 of 6 fathers and 2 of 6 mothers and in 4 of 12 other first-degree relatives. The authors concluded that the increased frequency in fathers argued against X-linked inheritance. </p><p>Geary et al. (1985) described 3 patients in England, 2 boys and a girl, with possible asymptomatic LMW proteinuria, indicating that the disorder was not confined to Japan. </p><p>Furuse et al. (1992) described 6 male patients with what they referred to as familial progressive renal tubulopathy but recognized as identical to familial low molecular weight proteinuria. The 6 patients belonged to 2 families in a single kindred: the propositus, his father, a paternal first cousin, 2 paternal uncles, and a maternal uncle. X-linked inheritance was thought to be most likely, but the possibility of autosomal dominant inheritance remained because of the occurrence of abnormality on both sides of the family. Furuse et al. (1992) suggested that the disorder may be progressive since older subjects showed more severe tubular dysfunction. All 6 had aminoaciduria and hypercalciuria, whereas glycosuria was present in 2 and phosphaturia in 4. </p><p>Igarashi et al. (1995) found that patients with low molecular weight proteinuria tended to have hypercalciuric nephrocalcinosis without rickets or renal failure. Some children additionally demonstrated hematuria, glycosuria, amino aciduria, impaired urinary concentrating ability, and a mild decrease in creatinine clearance. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of 4 unrelated Japanese kindreds with LMW proteinuria, Lloyd et al. (1997) identified 4 different mutations in the CLCN5 gene (300008.0001 and 300008.0008-300008.0010). </p><p>Nakazato et al. (1997) identified mutations in the CLCN5 gene in affected members of 2 Japanese families with low molecular weight proteinuria. </p><p>Akuta et al. (1997) identified mutations in the CLCN5 gene in 7 of 10 unrelated Japanese patients with low molecular weight proteinuria, hypercalciuria, and nephrocalcinosis. They estimated that over 70% of Japanese patients with the disorder have mutations in the CLCN5 gene. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</h4>
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<p />
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</div>
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<p class="mim-text-font">
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Akuta, N., Lloyd, S. E., Igarashi, T., Shiraga, H., Matsuyama, T., Yokoro, S., Cox, J. P. D., Thakker, R. V.
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<strong>Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis.</strong>
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Kidney Int. 52: 911-916, 1997.
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[PubMed: 9328929]
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[Full Text: https://doi.org/10.1038/ki.1997.412]
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Furuse, A., Futagoishi, Y., Karashima, S., Hattori, S., Matsuda, I.
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<strong>Familial progressive renal tubulopathy.</strong>
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Clin. Nephrol. 37: 192-197, 1992.
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[PubMed: 1582058]
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Gambaro, G., Vezzoli, G., Casari, G., Rampoldi, L., D'Angelo, A., Borghi, L.
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<strong>Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms.</strong>
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Am. J. Kidney Dis. 44: 963-986, 2004.
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[PubMed: 15558518]
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[Full Text: https://doi.org/10.1053/j.ajkd.2004.06.030]
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<p class="mim-text-font">
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Geary, D. F., Dillon, M. J., Gammon, K., Barratt, T. M.
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<strong>Tubular proteinuria in children without other defects of renal function.</strong>
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Nephron 40: 329-331, 1985.
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[PubMed: 4010847]
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[Full Text: https://doi.org/10.1159/000183487]
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Igarashi, T., Hayakawa, H., Shiraga, H., Kawato, H., Yan, K., Kawaguchi, H., Yamanake, T., Tsuchida, S., Akagi, K.
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<strong>Hypercalciuria and nephrocalcinosis in patients with idiopathic low molecular weight proteinuria in Japan: is the disease identical to Dent's disease in the United Kingdom?</strong>
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Nephron. 69: 242-247, 1995.
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[PubMed: 7753256]
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[Full Text: https://doi.org/10.1159/000188464]
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<p class="mim-text-font">
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Kawakami, H., Murakami, T., Matsuyama, S.
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<strong>Frequency of elevated urinary beta-2-microglobulin levels in relatives of patients with asymptomatic low molecular weight proteinuria.</strong>
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Pediat. Nephrol. 5: 277-278, 1991.
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[PubMed: 1867978]
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[Full Text: https://doi.org/10.1007/BF00867474]
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Lloyd, S. E., Pearce, S. H. S., Gunther, W., Kawaguchi, H., Igarashi, T., Jentsch, T. J., Thakker, R. V.
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<strong>Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).</strong>
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J. Clin. Invest. 99: 967-974, 1997.
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[PubMed: 9062355]
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[Full Text: https://doi.org/10.1172/JCI119262]
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<li>
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<p class="mim-text-font">
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Murakami, T., Kawakami, H., Matsuyama, S., Terashima, T., Karashima, S., Hattori, S.
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<strong>Asymptomatic low molecular weight proteinuria: studies in five patients.</strong>
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Clin. Nephrol. 28: 93-98, 1987.
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[PubMed: 3308234]
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<li>
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<p class="mim-text-font">
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Murakami, T., Kawakami, H.
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<strong>The clinical significance of asymptomatic low molecular weight proteinuria detected on routine screening of children in Japan: a survey of 53 patients.</strong>
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Clin. Nephrol. 33: 12-19, 1990.
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[PubMed: 1689232]
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<p class="mim-text-font">
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Nakazato, H., Hattori, S., Furuse, A., Kawano, T., Karashima, S., Tsuruta, M., Yoshimuta, J., Endo, F., Matsuda, I.
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<strong>Mutations in the CLCN5 gene in Japanese patients with familial idiopathic low-molecular-weight proteinuria.</strong>
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Kidney Int. 52: 895-900, 1997.
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[PubMed: 9328927]
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[Full Text: https://doi.org/10.1038/ki.1997.410]
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<li>
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<p class="mim-text-font">
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Scheinman, S. J.
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<strong>X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations.</strong>
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Kidney Int. 53: 3-17, 1998.
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[PubMed: 9452994]
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[Full Text: https://doi.org/10.1046/j.1523-1755.1998.00718.x]
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<p class="mim-text-font">
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Suzuki, Y., Okada, T., Higuchi, A., Mase, D., Kobayashi, O.
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<strong>Asymptomatic low molecular weight proteinuria: a report on 5 cases.</strong>
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Clin. Nephrol. 23: 249-254, 1985.
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[PubMed: 4006335]
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 10/13/2005<br>Cassandra L. Kniffin - reorganized : 9/19/2005<br>Cassandra L. Kniffin - updated : 9/6/2005
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</span>
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 9/18/1991
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Edit History:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 06/22/2021<br>wwang : 10/24/2005<br>ckniffin : 10/13/2005<br>carol : 9/19/2005<br>ckniffin : 9/6/2005<br>terry : 4/21/2005<br>kayiaros : 7/13/1999<br>carol : 5/27/1999<br>alopez : 7/8/1997<br>terry : 4/15/1996<br>mimadm : 2/27/1994<br>carol : 7/17/1992<br>supermim : 3/17/1992<br>carol : 10/15/1991<br>carol : 10/7/1991<br>carol : 9/19/1991
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</span>
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