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Entry
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- #614817 - INTERSTITIAL NEPHRITIS, KARYOMEGALIC; KMIN
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- OMIM
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<p>
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<span class="h4">#614817</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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<li role="presentation">
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<a href="/clinicalSynopsis/614817"><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="#inheritance">Inheritance</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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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=(INTERSTITIAL NEPHRITIS, KARYOMEGALIC) OR (FAN1)" 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="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=22865&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=614817[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="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=401996" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0060911" 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/614817" 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://omia.org/OMIA002683/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0060911" 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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<div>
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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>SNOMEDCT:</strong> 782738008<br />
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<strong>ORPHA:</strong> 401996<br />
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<strong>DO:</strong> 0060911<br />
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">ICD+</a>
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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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614817
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</span>
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</span>
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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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INTERSTITIAL NEPHRITIS, KARYOMEGALIC; KMIN
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</span>
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</h3>
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</div>
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<div>
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<br />
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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>
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<tr class="active">
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<th>
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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>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/15/53?start=-3&limit=10&highlight=53">
|
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15q13.3
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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">
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Interstitial nephritis, karyomegalic
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/614817"> 614817 </a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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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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</td>
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<td>
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<span class="mim-font">
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FAN1
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/613534"> 613534 </a>
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</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 class="btn-group ">
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<a href="/clinicalSynopsis/614817" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/614817" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/614817" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<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>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> GENITOURINARY </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Kidneys </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Chronic renal failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90688005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90688005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46177005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46177005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/433146000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">433146000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/709044004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">709044004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.6</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/585" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">585</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/585.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">585.6</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/585.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">585.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1561643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1561643</a>, <a href="https://bioportal.bioontology.org/search?q=C0022661&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022661</a>, <a href="https://bioportal.bioontology.org/search?q=C2316810&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2316810</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012622</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0003774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003774</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003774</a>]</span><br /> -
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End-stage renal disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90688005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90688005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46177005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46177005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/433146000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">433146000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/585.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">585.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022661&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022661</a>, <a href="https://bioportal.bioontology.org/search?q=C2316810&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2316810</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003774</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003774</a>]</span><br /> -
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|
Atrophic kidneys <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197659005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197659005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0341698&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0341698</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012585" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012585</a>]</span><br /> -
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Large nuclei (karyomegaly) in renal tubules seen renal biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3553775&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3553775</a>]</span><br /> -
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Hyperchromatic nuclei <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3553776&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3553776</a>]</span><br /> -
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|
Glomerular sclerosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/82646005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">82646005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197661001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197661001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0178664&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0178664</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000096" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000096</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000096" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000096</a>]</span><br /> -
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Interstitial fibrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/125565008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">125565008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3887486&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887486</a>]</span><br /> -
|
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Atrophic tubules <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3553777&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3553777</a>]</span><br /> -
|
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Cystic dilation of tubules (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3553778&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3553778</a>]</span><br /> -
|
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Chronic inflammatory infiltrate, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3553779&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3553779</a>]</span><br /> -
|
|
Nephronophthisis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q61.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q61.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0687120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0687120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008659" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008659</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000090" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000090</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000090" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000090</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
|
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- Proteinuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29738008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29738008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/231860006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">231860006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1279888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279888</a>, <a href="https://bioportal.bioontology.org/search?q=C0033687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033687</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span><br /> -
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Glycosuria <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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Increased BUN <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151539&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151539</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003138" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003138</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003138" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003138</a>]</span><br /> -
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Increased creatinine <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166717003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166717003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151578&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151578</a>, <a href="https://bioportal.bioontology.org/search?q=C0700225&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700225</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003259</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003259</a>]</span><br /> -
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Abnormal liver function tests (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166603001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166603001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R94.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R94.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/794.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">794.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151766&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151766</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002910" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002910</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002910" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002910</a>]</span><br /> -
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Hematuria (less common) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53298000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53298000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34436003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34436003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R31.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R31.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/599.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">599.7</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/599.70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">599.70</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018965&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018965</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000790" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000790</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000790" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000790</a>]</span><br /> -
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Karyomegaly may be found in other visceral organs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3553782&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3553782</a>]</span><br />
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- Onset of renal failure in adulthood (range twenties to fifties)<br /> -
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Progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span><br />
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- Caused by mutation in the FANCD2/FANCI-associated nuclease 1 gene (FAN1, <a href="/entry/613534#0001">613534.0001</a>)<br />
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>A number sign (#) is used with this entry because karyomegalic interstitial nephritis (KMIN) is caused by homozygous or compound heterozygous mutation in the FAN1 gene (<a href="/entry/613534">613534</a>) on chromosome 15q13.</p>
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<p>Karyomegalic tubulointerstitial nephritis (KMIN) is a rare kidney disease characterized clinically by onset in the third decade of progressive renal failure. Renal biopsy shows chronic tubulointerstitial nephritis and interstitial fibrosis associated with enlarged and atypical tubular epithelial cell nuclei (summary by <a href="#1" class="mim-tip-reference" title="Baba, F., Nanovic, L., Jaffery, J. B., Friedl, A. <strong>Karyomegalic tubulointerstitial nephritis--a case report.</strong> Path. Res. Pract. 202: 555-559, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16678356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16678356</a>] [<a href="https://doi.org/10.1016/j.prp.2006.02.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16678356">Baba et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16678356" 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="#5" class="mim-tip-reference" title="Spoendlin, M., Moch, H., Brunner, F., Brunner, W., Burger, H.-R., Kiss, D., Wegmann, W., Dalquen, P., Oberholzer, M., Thiel, G., Mihatsch, M. J. <strong>Karyomegalic interstitial nephritis: further support for a distinct entity and evidence for a genetic defect.</strong> Am. J. Kidney Dis. 25: 242-252, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7847351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7847351</a>] [<a href="https://doi.org/10.1016/0272-6386(95)90005-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7847351">Spoendlin et al. (1995)</a> reported 3 unrelated adult patients who presented with asymptomatic, slowly progressive renal dysfunction identified by routine laboratory investigation. Two patients had proteinuria, and 1 had hypertension. All had a history of recurrent infections earlier in life. Urine cytology of a son of one of the patients showed a few cells with enlarged nuclei; his renal function was normal. Renal biopsy in the 3 probands showed markedly enlarged and hyperchromatic nuclei in tubular epithelial cells in all parts of the nephron. Electron microscopy showed bizarrely enlarged nuclei with an irregular distribution of chromatin. In all cases, there was interstitial fibrosis surrounding atrophic tubules, and some of the glomeruli were completely sclerosed. Immunohistochemical studies showed significantly increased PCNA (<a href="/entry/176740">176740</a>), suggesting active DNA synthesis and perhaps an inhibition of mitosis in these cells. <a href="#5" class="mim-tip-reference" title="Spoendlin, M., Moch, H., Brunner, F., Brunner, W., Burger, H.-R., Kiss, D., Wegmann, W., Dalquen, P., Oberholzer, M., Thiel, G., Mihatsch, M. J. <strong>Karyomegalic interstitial nephritis: further support for a distinct entity and evidence for a genetic defect.</strong> Am. J. Kidney Dis. 25: 242-252, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7847351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7847351</a>] [<a href="https://doi.org/10.1016/0272-6386(95)90005-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7847351">Spoendlin et al. (1995)</a> postulated a genetic defect causing an induction of DNA repair. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7847351" 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="Godin, M., Francois, A., Le Roy, F., Morin, J.-P., Creppy, E., Hemet, J., Fillastre, J.-P. <strong>Karyomegalic interstitial nephritis. (Letter)</strong> Am. J. Kidney Dis. 27: 166 only, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8546134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8546134</a>] [<a href="https://doi.org/10.1016/s0272-6386(96)90047-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8546134">Godin et al. (1996)</a> reported a French brother and sister with onset of progressive renal failure at ages 32 and 42 years, respectively. Neither had a history of recurrent infections. Both had mild proteinuria and glycosuria. Both had persistent elevation of liver enzymes, which was more marked in the brother, but his liver biopsy was normal. Renal biopsies of both patients showed enlarged and hyperchromatic nuclei in tubular epithelial cells as well as in endothelial cells of the peritubular capillaries. Both had high levels of blood and urine ochratoxin A, a mycotoxin known to be nephrotoxic. The brother underwent renal transplantation and had normal renal function 10 years later. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8546134" 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="Baba, F., Nanovic, L., Jaffery, J. B., Friedl, A. <strong>Karyomegalic tubulointerstitial nephritis--a case report.</strong> Path. Res. Pract. 202: 555-559, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16678356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16678356</a>] [<a href="https://doi.org/10.1016/j.prp.2006.02.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16678356">Baba et al. (2006)</a> reported a 39-year-old man who presented with asymptomatic progressive renal failure. He also had mild hypertension and mildly increased liver enzymes. Renal biopsy showed globally sclerosed glomeruli, interstitial fibrosis with tubular atrophy, and karyomegaly in tubular epithelial cells. Electron microscopy showed uneven chromatin distribution in the nuclei. The disorder progressed to stage IV chronic renal failure and the patient was worked-up for transplantation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16678356" 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="#3" class="mim-tip-reference" title="Monga, G., Banfi, G., Salvadore, M., Amatruda, O., Bozzola, C., Mazzucco, G. <strong>Karyomegalic interstitial nephritis: report of 3 new cases and review of the literature.</strong> Clin. Nephrol. 65: 349-355, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16724656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16724656</a>] [<a href="https://doi.org/10.5414/cnp65349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16724656">Monga et al. (2006)</a> reported 2 Italian sibs, born of consanguineous parents, with karyomegalic interstitial nephritis. The patients presented at ages 31 and 22 years, respectively. The older sister had a history of repeated respiratory infections. At age 38, she had severe renal failure. Renal biopsy showed hyalinized glomeruli, large nuclei in tubular epithelial cells, atrophic tubules, and interstitial fibrosis. Karyomegalic changes were also noted in a skin biopsy and liver biopsy. She underwent kidney transplantation at age 42, but died 20 days later. Postmortem examination showed karyomegalic cells in multiple tissues, including endothelial cells in the brain and lung, fibroblasts of the thyroid and myocardium, Schwann cells, the esophagus, and smooth muscle cells of the aorta. Her younger brother had severe chronic renal failure and chronic liver disease with increased liver enzymes and cholestasis. Renal biopsy was similar to his sister's, with hyperchromatic nuclei and nuclei with dispersed chromatin. Karyomegalic cells were also observed in a duodenal biopsy. He developed chronic renal failure requiring dialysis and died 6 years after presentation. <a href="#3" class="mim-tip-reference" title="Monga, G., Banfi, G., Salvadore, M., Amatruda, O., Bozzola, C., Mazzucco, G. <strong>Karyomegalic interstitial nephritis: report of 3 new cases and review of the literature.</strong> Clin. Nephrol. 65: 349-355, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16724656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16724656</a>] [<a href="https://doi.org/10.5414/cnp65349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16724656">Monga et al. (2006)</a> also reported an unrelated Italian man with a less severe form of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16724656" 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="Palmer, D., Lallu, S., Matheson, P., Bethwaite, P., Tompson, K. <strong>Karyomegalic interstitial nephritis: a pitfall in urine cytology.</strong> Diagn. Cytopathol. 35: 179-182, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17304531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17304531</a>] [<a href="https://doi.org/10.1002/dc.20603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17304531">Palmer et al. (2007)</a> reported a 44-year-old Maori woman who presented with pneumonia and was found to have renal insufficiency on biochemical studies. She also had normocytic anemia requiring transfusion. Renal ultrasound showed atrophic and echogenic kidneys, and urinalysis showed protein and glucose. Renal biopsy revealed karyomegalic changes in the tubules, dilated tubules, and tubular atrophy. Cytology of the urine showed irregular, large, vesicular nuclei with prominent nucleoli and atypical features, which <a href="#4" class="mim-tip-reference" title="Palmer, D., Lallu, S., Matheson, P., Bethwaite, P., Tompson, K. <strong>Karyomegalic interstitial nephritis: a pitfall in urine cytology.</strong> Diagn. Cytopathol. 35: 179-182, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17304531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17304531</a>] [<a href="https://doi.org/10.1002/dc.20603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17304531">Palmer et al. (2007)</a> noted could mimic carcinoma. Family history revealed a brother with karyomegalic interstitial nephritis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17304531" 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="#6" class="mim-tip-reference" title="Verine, J., Reade, R., Janin, A., Droz, D. <strong>Nephrite interstitielle caryomegalique: un nouveau cas francais.</strong> Ann. Path. 30: 240-242, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20621605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20621605</a>] [<a href="https://doi.org/10.1016/j.annpat.2010.03.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20621605">Verine et al. (2010)</a> reported a 50-year-old French woman who presented with asymptomatic renal failure and mild proteinuria without hematuria. Renal biopsy showed large tubulointerstitial fibrosis and massively enlarged tubular epithelial cell nuclei, consistent with karyomegalic interstitial nephritis. Family history revealed a brother who died of renal insufficiency at 35 years of age. In the patient reported by <a href="#6" class="mim-tip-reference" title="Verine, J., Reade, R., Janin, A., Droz, D. <strong>Nephrite interstitielle caryomegalique: un nouveau cas francais.</strong> Ann. Path. 30: 240-242, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20621605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20621605</a>] [<a href="https://doi.org/10.1016/j.annpat.2010.03.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20621605">Verine et al. (2010)</a>, <a href="#7" class="mim-tip-reference" title="Zhou, W., Otto, E. A., Cluckey, A., Airik, R., Hurd, T. W., Chaki, M., Diaz, K., Lach, F. P., Bennett, G. R., Gee, H. Y., Ghosh, A. K., Natarajan, S., and 32 others. <strong>FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.</strong> Nature Genet. 44: 910-915, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22772369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22772369</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22772369[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22772369">Zhou et al. (2012)</a> identified compound heterozygous mutations in the FAN1 gene (<a href="/entry/613534#0005">613534.0005</a> and <a href="/entry/613534#0006">613534.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20621605+22772369" 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>The transmission pattern of karyomegalic interstitial nephritis in the families reported by <a href="#7" class="mim-tip-reference" title="Zhou, W., Otto, E. A., Cluckey, A., Airik, R., Hurd, T. W., Chaki, M., Diaz, K., Lach, F. P., Bennett, G. R., Gee, H. Y., Ghosh, A. K., Natarajan, S., and 32 others. <strong>FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.</strong> Nature Genet. 44: 910-915, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22772369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22772369</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22772369[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22772369">Zhou et al. (2012)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22772369" 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 9 unrelated families with karyomegalic interstitial nephritis, <a href="#7" class="mim-tip-reference" title="Zhou, W., Otto, E. A., Cluckey, A., Airik, R., Hurd, T. W., Chaki, M., Diaz, K., Lach, F. P., Bennett, G. R., Gee, H. Y., Ghosh, A. K., Natarajan, S., and 32 others. <strong>FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.</strong> Nature Genet. 44: 910-915, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22772369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22772369</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22772369[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22772369">Zhou et al. (2012)</a> identified 12 different homozygous or compound heterozygous mutations in the FAN1 gene (see, e.g., <a href="/entry/613534#0001">613534.0001</a>-<a href="/entry/613534#0008">613534.0008</a>). Eight of the 12 mutations resulted in a truncated protein. The first mutation was identified by homozygosity mapping and exome sequencing in an affected family reported by <a href="#4" class="mim-tip-reference" title="Palmer, D., Lallu, S., Matheson, P., Bethwaite, P., Tompson, K. <strong>Karyomegalic interstitial nephritis: a pitfall in urine cytology.</strong> Diagn. Cytopathol. 35: 179-182, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17304531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17304531</a>] [<a href="https://doi.org/10.1002/dc.20603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17304531">Palmer et al. (2007)</a>. Other families with mutations had been reported by <a href="#2" class="mim-tip-reference" title="Godin, M., Francois, A., Le Roy, F., Morin, J.-P., Creppy, E., Hemet, J., Fillastre, J.-P. <strong>Karyomegalic interstitial nephritis. (Letter)</strong> Am. J. Kidney Dis. 27: 166 only, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8546134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8546134</a>] [<a href="https://doi.org/10.1016/s0272-6386(96)90047-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8546134">Godin et al. (1996)</a>, <a href="#5" class="mim-tip-reference" title="Spoendlin, M., Moch, H., Brunner, F., Brunner, W., Burger, H.-R., Kiss, D., Wegmann, W., Dalquen, P., Oberholzer, M., Thiel, G., Mihatsch, M. J. <strong>Karyomegalic interstitial nephritis: further support for a distinct entity and evidence for a genetic defect.</strong> Am. J. Kidney Dis. 25: 242-252, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7847351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7847351</a>] [<a href="https://doi.org/10.1016/0272-6386(95)90005-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7847351">Spoendlin et al. (1995)</a>, and <a href="#1" class="mim-tip-reference" title="Baba, F., Nanovic, L., Jaffery, J. B., Friedl, A. <strong>Karyomegalic tubulointerstitial nephritis--a case report.</strong> Path. Res. Pract. 202: 555-559, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16678356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16678356</a>] [<a href="https://doi.org/10.1016/j.prp.2006.02.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16678356">Baba et al. (2006)</a>. Upon exposure to mitomycin C, FAN1 mutant cells showed genomic instability, as manifest by increased chromatid breaks and radial chromosomes on metaphase spreads. Although the results of the test for Fanconi anemia (see, e.g., <a href="/entry/227650">227650</a>), diepoxybutane-induced breakage, were negative in FAN1-mutant cells lines, these cells still showed decreased survival compared to wildtype in response to either inducer of interstrand crosslink repair (ICL). None of the FAN1 mutant proteins was able to correct mitomycin C-induced decreased survival in cells lacking FAN1 nuclease activity. Morpholino knockdown of Fan1 in zebrafish embryos resulted in a nephronophthisis (NPHP; <a href="/entry/256100">256100</a>)-like phenotype, with shortened and curved body axis, as well as a Fanconi anemia-like phenotype, with microcephaly, microphthalmia, and massive apoptosis. There was evidence of activation of the DNA damage repair pathway, as demonstrated by increased signaling for gamma-H2AX (H2AFX; <a href="/entry/601772">601772</a>). Knockdown of both Fan1 and p53 (<a href="/entry/191170">191170</a>) in zebrafish caused renal cysts, reminiscent of a ciliopathy. In the fawn-hooded hypertensive rat, an animal model of chronic kidney disease, as well as in kidney samples from humans with genetically heterogeneous forms of chronic kidney disease, <a href="#7" class="mim-tip-reference" title="Zhou, W., Otto, E. A., Cluckey, A., Airik, R., Hurd, T. W., Chaki, M., Diaz, K., Lach, F. P., Bennett, G. R., Gee, H. Y., Ghosh, A. K., Natarajan, S., and 32 others. <strong>FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.</strong> Nature Genet. 44: 910-915, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22772369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22772369</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22772369[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22772369">Zhou et al. (2012)</a> found increased nuclear staining for gamma-H2AX, indicating activation of the DNA damage response pathway. These findings supported the hypothesis that DNA lesions and DNA damage response pathways may partially drive renal damage in NPHP-related ciliopathies and in chronic kidney disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17304531+8546134+7847351+16678356+22772369" 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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Baba, F., Nanovic, L., Jaffery, J. B., Friedl, A.
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<strong>Karyomegalic tubulointerstitial nephritis--a case report.</strong>
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Path. Res. Pract. 202: 555-559, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16678356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16678356</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16678356" 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/10.1016/j.prp.2006.02.004" target="_blank">Full Text</a>]
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Godin, M., Francois, A., Le Roy, F., Morin, J.-P., Creppy, E., Hemet, J., Fillastre, J.-P.
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<strong>Karyomegalic interstitial nephritis. (Letter)</strong>
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Am. J. Kidney Dis. 27: 166 only, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8546134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8546134</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8546134" 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/10.1016/s0272-6386(96)90047-5" target="_blank">Full Text</a>]
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Monga, G., Banfi, G., Salvadore, M., Amatruda, O., Bozzola, C., Mazzucco, G.
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<strong>Karyomegalic interstitial nephritis: report of 3 new cases and review of the literature.</strong>
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Clin. Nephrol. 65: 349-355, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16724656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16724656</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16724656" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Palmer, D., Lallu, S., Matheson, P., Bethwaite, P., Tompson, K.
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<strong>Karyomegalic interstitial nephritis: a pitfall in urine cytology.</strong>
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Diagn. Cytopathol. 35: 179-182, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17304531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17304531</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17304531" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Spoendlin, M., Moch, H., Brunner, F., Brunner, W., Burger, H.-R., Kiss, D., Wegmann, W., Dalquen, P., Oberholzer, M., Thiel, G., Mihatsch, M. J.
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<strong>Karyomegalic interstitial nephritis: further support for a distinct entity and evidence for a genetic defect.</strong>
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Am. J. Kidney Dis. 25: 242-252, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7847351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7847351</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7847351" 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/10.1016/0272-6386(95)90005-5" target="_blank">Full Text</a>]
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Verine, J., Reade, R., Janin, A., Droz, D.
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<strong>Nephrite interstitielle caryomegalique: un nouveau cas francais.</strong>
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Ann. Path. 30: 240-242, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20621605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20621605</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20621605" 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/10.1016/j.annpat.2010.03.001" target="_blank">Full Text</a>]
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Zhou, W., Otto, E. A., Cluckey, A., Airik, R., Hurd, T. W., Chaki, M., Diaz, K., Lach, F. P., Bennett, G. R., Gee, H. Y., Ghosh, A. K., Natarajan, S., and 32 others.
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<strong>FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.</strong>
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Nature Genet. 44: 910-915, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22772369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22772369</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22772369[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22772369" 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/ng.2347" target="_blank">Full Text</a>]
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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 : 05/20/2013
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Cassandra L. Kniffin : 9/12/2012
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carol : 01/21/2020
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carol : 11/20/2019<br>ckniffin : 05/20/2013<br>carol : 9/13/2012<br>ckniffin : 9/13/2012
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<strong>#</strong> 614817
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INTERSTITIAL NEPHRITIS, KARYOMEGALIC; KMIN
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<strong>SNOMEDCT:</strong> 782738008;
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<strong>ORPHA:</strong> 401996;
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<strong>DO:</strong> 0060911;
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Phenotype
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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15q13.3
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Interstitial nephritis, karyomegalic
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Autosomal recessive
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FAN1
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613534
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<p>A number sign (#) is used with this entry because karyomegalic interstitial nephritis (KMIN) is caused by homozygous or compound heterozygous mutation in the FAN1 gene (613534) on chromosome 15q13.</p>
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<p>Karyomegalic tubulointerstitial nephritis (KMIN) is a rare kidney disease characterized clinically by onset in the third decade of progressive renal failure. Renal biopsy shows chronic tubulointerstitial nephritis and interstitial fibrosis associated with enlarged and atypical tubular epithelial cell nuclei (summary by Baba et al., 2006). </p>
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<p>Spoendlin et al. (1995) reported 3 unrelated adult patients who presented with asymptomatic, slowly progressive renal dysfunction identified by routine laboratory investigation. Two patients had proteinuria, and 1 had hypertension. All had a history of recurrent infections earlier in life. Urine cytology of a son of one of the patients showed a few cells with enlarged nuclei; his renal function was normal. Renal biopsy in the 3 probands showed markedly enlarged and hyperchromatic nuclei in tubular epithelial cells in all parts of the nephron. Electron microscopy showed bizarrely enlarged nuclei with an irregular distribution of chromatin. In all cases, there was interstitial fibrosis surrounding atrophic tubules, and some of the glomeruli were completely sclerosed. Immunohistochemical studies showed significantly increased PCNA (176740), suggesting active DNA synthesis and perhaps an inhibition of mitosis in these cells. Spoendlin et al. (1995) postulated a genetic defect causing an induction of DNA repair. </p><p>Godin et al. (1996) reported a French brother and sister with onset of progressive renal failure at ages 32 and 42 years, respectively. Neither had a history of recurrent infections. Both had mild proteinuria and glycosuria. Both had persistent elevation of liver enzymes, which was more marked in the brother, but his liver biopsy was normal. Renal biopsies of both patients showed enlarged and hyperchromatic nuclei in tubular epithelial cells as well as in endothelial cells of the peritubular capillaries. Both had high levels of blood and urine ochratoxin A, a mycotoxin known to be nephrotoxic. The brother underwent renal transplantation and had normal renal function 10 years later. </p><p>Baba et al. (2006) reported a 39-year-old man who presented with asymptomatic progressive renal failure. He also had mild hypertension and mildly increased liver enzymes. Renal biopsy showed globally sclerosed glomeruli, interstitial fibrosis with tubular atrophy, and karyomegaly in tubular epithelial cells. Electron microscopy showed uneven chromatin distribution in the nuclei. The disorder progressed to stage IV chronic renal failure and the patient was worked-up for transplantation. </p><p>Monga et al. (2006) reported 2 Italian sibs, born of consanguineous parents, with karyomegalic interstitial nephritis. The patients presented at ages 31 and 22 years, respectively. The older sister had a history of repeated respiratory infections. At age 38, she had severe renal failure. Renal biopsy showed hyalinized glomeruli, large nuclei in tubular epithelial cells, atrophic tubules, and interstitial fibrosis. Karyomegalic changes were also noted in a skin biopsy and liver biopsy. She underwent kidney transplantation at age 42, but died 20 days later. Postmortem examination showed karyomegalic cells in multiple tissues, including endothelial cells in the brain and lung, fibroblasts of the thyroid and myocardium, Schwann cells, the esophagus, and smooth muscle cells of the aorta. Her younger brother had severe chronic renal failure and chronic liver disease with increased liver enzymes and cholestasis. Renal biopsy was similar to his sister's, with hyperchromatic nuclei and nuclei with dispersed chromatin. Karyomegalic cells were also observed in a duodenal biopsy. He developed chronic renal failure requiring dialysis and died 6 years after presentation. Monga et al. (2006) also reported an unrelated Italian man with a less severe form of the disorder. </p><p>Palmer et al. (2007) reported a 44-year-old Maori woman who presented with pneumonia and was found to have renal insufficiency on biochemical studies. She also had normocytic anemia requiring transfusion. Renal ultrasound showed atrophic and echogenic kidneys, and urinalysis showed protein and glucose. Renal biopsy revealed karyomegalic changes in the tubules, dilated tubules, and tubular atrophy. Cytology of the urine showed irregular, large, vesicular nuclei with prominent nucleoli and atypical features, which Palmer et al. (2007) noted could mimic carcinoma. Family history revealed a brother with karyomegalic interstitial nephritis. </p><p>Verine et al. (2010) reported a 50-year-old French woman who presented with asymptomatic renal failure and mild proteinuria without hematuria. Renal biopsy showed large tubulointerstitial fibrosis and massively enlarged tubular epithelial cell nuclei, consistent with karyomegalic interstitial nephritis. Family history revealed a brother who died of renal insufficiency at 35 years of age. In the patient reported by Verine et al. (2010), Zhou et al. (2012) identified compound heterozygous mutations in the FAN1 gene (613534.0005 and 613534.0006). </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of karyomegalic interstitial nephritis in the families reported by Zhou et al. (2012) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of 9 unrelated families with karyomegalic interstitial nephritis, Zhou et al. (2012) identified 12 different homozygous or compound heterozygous mutations in the FAN1 gene (see, e.g., 613534.0001-613534.0008). Eight of the 12 mutations resulted in a truncated protein. The first mutation was identified by homozygosity mapping and exome sequencing in an affected family reported by Palmer et al. (2007). Other families with mutations had been reported by Godin et al. (1996), Spoendlin et al. (1995), and Baba et al. (2006). Upon exposure to mitomycin C, FAN1 mutant cells showed genomic instability, as manifest by increased chromatid breaks and radial chromosomes on metaphase spreads. Although the results of the test for Fanconi anemia (see, e.g., 227650), diepoxybutane-induced breakage, were negative in FAN1-mutant cells lines, these cells still showed decreased survival compared to wildtype in response to either inducer of interstrand crosslink repair (ICL). None of the FAN1 mutant proteins was able to correct mitomycin C-induced decreased survival in cells lacking FAN1 nuclease activity. Morpholino knockdown of Fan1 in zebrafish embryos resulted in a nephronophthisis (NPHP; 256100)-like phenotype, with shortened and curved body axis, as well as a Fanconi anemia-like phenotype, with microcephaly, microphthalmia, and massive apoptosis. There was evidence of activation of the DNA damage repair pathway, as demonstrated by increased signaling for gamma-H2AX (H2AFX; 601772). Knockdown of both Fan1 and p53 (191170) in zebrafish caused renal cysts, reminiscent of a ciliopathy. In the fawn-hooded hypertensive rat, an animal model of chronic kidney disease, as well as in kidney samples from humans with genetically heterogeneous forms of chronic kidney disease, Zhou et al. (2012) found increased nuclear staining for gamma-H2AX, indicating activation of the DNA damage response pathway. These findings supported the hypothesis that DNA lesions and DNA damage response pathways may partially drive renal damage in NPHP-related ciliopathies and in chronic kidney disease. </p>
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<strong>REFERENCES</strong>
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Baba, F., Nanovic, L., Jaffery, J. B., Friedl, A.
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<strong>Karyomegalic tubulointerstitial nephritis--a case report.</strong>
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Path. Res. Pract. 202: 555-559, 2006.
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[PubMed: 16678356]
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[Full Text: https://doi.org/10.1016/j.prp.2006.02.004]
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Godin, M., Francois, A., Le Roy, F., Morin, J.-P., Creppy, E., Hemet, J., Fillastre, J.-P.
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<strong>Karyomegalic interstitial nephritis. (Letter)</strong>
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Am. J. Kidney Dis. 27: 166 only, 1996.
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[PubMed: 8546134]
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[Full Text: https://doi.org/10.1016/s0272-6386(96)90047-5]
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Monga, G., Banfi, G., Salvadore, M., Amatruda, O., Bozzola, C., Mazzucco, G.
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<strong>Karyomegalic interstitial nephritis: report of 3 new cases and review of the literature.</strong>
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Clin. Nephrol. 65: 349-355, 2006.
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[PubMed: 16724656]
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[Full Text: https://doi.org/10.5414/cnp65349]
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<p class="mim-text-font">
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Palmer, D., Lallu, S., Matheson, P., Bethwaite, P., Tompson, K.
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<strong>Karyomegalic interstitial nephritis: a pitfall in urine cytology.</strong>
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Diagn. Cytopathol. 35: 179-182, 2007.
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[PubMed: 17304531]
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[Full Text: https://doi.org/10.1002/dc.20603]
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Spoendlin, M., Moch, H., Brunner, F., Brunner, W., Burger, H.-R., Kiss, D., Wegmann, W., Dalquen, P., Oberholzer, M., Thiel, G., Mihatsch, M. J.
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<strong>Karyomegalic interstitial nephritis: further support for a distinct entity and evidence for a genetic defect.</strong>
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Am. J. Kidney Dis. 25: 242-252, 1995.
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[PubMed: 7847351]
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[Full Text: https://doi.org/10.1016/0272-6386(95)90005-5]
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<p class="mim-text-font">
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Verine, J., Reade, R., Janin, A., Droz, D.
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<strong>Nephrite interstitielle caryomegalique: un nouveau cas francais.</strong>
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Ann. Path. 30: 240-242, 2010.
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[PubMed: 20621605]
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[Full Text: https://doi.org/10.1016/j.annpat.2010.03.001]
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Zhou, W., Otto, E. A., Cluckey, A., Airik, R., Hurd, T. W., Chaki, M., Diaz, K., Lach, F. P., Bennett, G. R., Gee, H. Y., Ghosh, A. K., Natarajan, S., and 32 others.
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<strong>FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.</strong>
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Nature Genet. 44: 910-915, 2012.
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[PubMed: 22772369]
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[Full Text: https://doi.org/10.1038/ng.2347]
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Cassandra L. Kniffin - updated : 05/20/2013
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Cassandra L. Kniffin : 9/12/2012
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carol : 01/21/2020<br>carol : 11/20/2019<br>ckniffin : 05/20/2013<br>carol : 9/13/2012<br>ckniffin : 9/13/2012
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