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1218 lines
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106 KiB
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<meta name="keywords" content="C4539903, disease or syndrome, dzip1l, dzip1l polycystic kidney disease, pkd5, polycystic kidney disease 5, polycystic kidney disease caused by mutation in dzip1l, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="PKD5, a form of autosomal recessive polycystic kidney disease (ARPKD), is characterized by early childhood onset of progressive renal dysfunction associated with enlarged hyperechogenic kidneys that often results in end-stage renal disease in the second or third decade of life. Arterial hypertension is apparent in early childhood (summary by Lu et al., 2017). For a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (173900)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1624679
|
||
ConceptID=C4539903
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Polycystic kidney disease 5<span class="h1sub">(PKD5)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1624679</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4539903</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>PKD5; POLYCYSTIC KIDNEY DISEASE 5</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="DZIP1L - ID: 199221 - NCBI Gene" href="/gene/199221" class="medgenPMinfo">DZIP1L</a> (3q22.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0033281" target="_blank">MONDO:0033281</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617610" target="_blank">617610</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">PKD5, a form of autosomal recessive polycystic kidney disease (ARPKD), is characterized by early childhood onset of progressive renal dysfunction associated with enlarged hyperechogenic kidneys that often results in end-stage renal disease in the second or third decade of life. Arterial hypertension is apparent in early childhood (summary by Lu et al., 2017). For a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (173900). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_9639"><div><strong>Polycystic kidney disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9639</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0022680</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of multiple cysts in both kidneys.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9639">Feature record</a> | <a href="/medgen?term=%22Polycystic%20kidney%20disease%22%5BClinical%20Features%5D%20OR%209639%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108156"><div><strong>Enlarged kidney</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108156</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0542518</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal increase in the size of the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108156">Feature record</a> | <a href="/medgen?term=%22Enlarged%20kidney%22%5BClinical%20Features%5D%20OR%20108156%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_384526"><div><strong>Stage 5 chronic kidney disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>384526</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2316810</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/384526">Feature record</a> | <a href="/medgen?term=%22Stage%205%20chronic%20kidney%20disease%22%5BClinical%20Features%5D%20OR%20384526%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_477530"><div><strong>Hyperechogenic kidneys</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477530</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3275899</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/477530">Feature record</a> | <a href="/medgen?term=%22Hyperechogenic%20kidneys%22%5BClinical%20Features%5D%20OR%20477530%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_813461"><div><strong>Reduced renal corticomedullary differentiation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>813461</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3807131</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced differentiation between renal cortex and medulla on diagnostic imaging.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/813461">Feature record</a> | <a href="/medgen?term=%22Reduced%20renal%20corticomedullary%20differentiation%22%5BClinical%20Features%5D%20OR%20813461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6969"><div><strong>Hypertensive disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6969</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of chronic increased pressure in the systemic arterial system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6969">Feature record</a> | <a href="/medgen?term=%22Hypertensive%20disorder%22%5BClinical%20Features%5D%20OR%206969%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9225"><div><strong>Hepatosplenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9225</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0019214</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Simultaneous enlargement of the liver and spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9225">Feature record</a> | <a href="/medgen?term=%22Hepatosplenomegaly%22%5BClinical%20Features%5D%20OR%209225%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertensive disorder</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatosplenomegaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108156" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Enlarged kidney</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_477530" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperechogenic kidneys</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9639" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polycystic kidney disease</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_813461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced renal corticomedullary differentiation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_384526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stage 5 chronic kidney disease</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0085548[DISCUI]&test_type=Clinical" ref="ncbi_uid=39076">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0085548[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=39076">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=39076" target="_blank" href="/omim/263200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1326/" ref="ncbi_uid=39076">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=39076" ref="ncbi_uid=39076">V</a></span></span><span class="TLline"><a href="/medgen/39076" ref="tree=GTR&ncbi_uid=39076&link_uid=39076" title="View MedGen record for 'Autosomal recessive polycystic kidney disease'">Autosomal recessive polycystic kidney disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4540575[DISCUI]&test_type=Clinical" ref="ncbi_uid=1621793">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1621793" target="_blank" href="/omim/606702">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1326/" ref="ncbi_uid=1621793">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1621793" ref="ncbi_uid=1621793">V</a></span></span><span class="TLline"><a href="/medgen/1621793" ref="tree=GTR&ncbi_uid=1621793&link_uid=1621793" title="View MedGen record for 'Polycystic kidney disease 4'">Polycystic kidney disease 4</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4539903[DISCUI]&test_type=Clinical" ref="ncbi_uid=1624679">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1624679" target="_blank" href="/omim/617570">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1624679" ref="ncbi_uid=1624679">V</a></span></span><span class="TLline">Polycystic kidney disease 5</span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842297" ref="tree=MeSH" title="MedGen record for Familial cystic renal disease">Familial cystic renal disease</a></span><ul><li><span class="TLline"><a href="/medgen/39076" ref="tree=MeSH" title="MedGen record for Autosomal recessive polycystic kidney disease">Autosomal recessive polycystic kidney disease</a></span><ul><li><span class="matched_ds">Polycystic kidney disease 5</span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30367658">Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen HL,
|
||
Wu SH,
|
||
Hsu SH,
|
||
Liou BY,
|
||
Chen HL,
|
||
Chang MH</span><br />
|
||
<span class="medgenPMjournal">J Biomed Sci</span>
|
||
2018 Oct 26;25(1):75.
|
||
doi: 10.1186/s12929-018-0475-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30367658" target="_blank">30367658</a><a href="/pmc/articles/PMC6203212" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26453610">Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hwang YH,
|
||
Conklin J,
|
||
Chan W,
|
||
Roslin NM,
|
||
Liu J,
|
||
He N,
|
||
Wang K,
|
||
Sundsbak JL,
|
||
Heyer CM,
|
||
Haider M,
|
||
Paterson AD,
|
||
Harris PC,
|
||
Pei Y</span><br />
|
||
<span class="medgenPMjournal">J Am Soc Nephrol</span>
|
||
2016 Jun;27(6):1861-8.
|
||
Epub 2015 Oct 9
|
||
doi: 10.1681/ASN.2015060648.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26453610" target="_blank">26453610</a><a href="/pmc/articles/PMC4884120" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19940839">Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Denamur E,
|
||
Delezoide AL,
|
||
Alberti C,
|
||
Bourillon A,
|
||
Gubler MC,
|
||
Bouvier R,
|
||
Pascaud O,
|
||
Elion J,
|
||
Grandchamp B,
|
||
Michel-Calemard L,
|
||
Missy P,
|
||
Zaccaria I,
|
||
Le Nagard H,
|
||
Gerard B,
|
||
Loirat C;
|
||
Société Française de Foetopathologie,
|
||
Barbet J,
|
||
Beaufrère AM,
|
||
Berchel C,
|
||
Bessières B,
|
||
Boudjemaa S,
|
||
Buenerd A,
|
||
Carles D,
|
||
Clemenson A,
|
||
Dechelotte P,
|
||
Devisme L,
|
||
Dijoud F,
|
||
Espérandieu O,
|
||
Fallet C,
|
||
Gonzalès M,
|
||
Hillion Y,
|
||
Jacob B,
|
||
Joubert M,
|
||
Kermanach P,
|
||
Lallemand A,
|
||
Laquerrière A,
|
||
Laurent N,
|
||
Liprandi A,
|
||
Loeuillet L,
|
||
Loget P,
|
||
Martinovic J,
|
||
Ménez F,
|
||
Narcy F,
|
||
Roux JJ,
|
||
Rouleau-Dubois C,
|
||
Sinico M,
|
||
Tantau J,
|
||
Wann AR</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2010 Feb;77(4):350-8.
|
||
Epub 2009 Nov 25
|
||
doi: 10.1038/ki.2009.440.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19940839" target="_blank">19940839</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(polycystic%20kidney%20disease%205)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (129)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38097330">Genetic Spectrum of Polycystic Kidney and Liver Diseases and the Resulting Phenotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang H,
|
||
Sieben CJ,
|
||
Schauer RS,
|
||
Harris PC</span><br />
|
||
<span class="medgenPMjournal">Adv Kidney Dis Health</span>
|
||
2023 Sep;30(5):397-406.
|
||
doi: 10.1053/j.akdh.2023.04.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38097330" target="_blank">38097330</a><a href="/pmc/articles/PMC10746289" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37230223">The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Petzold F,
|
||
Billot K,
|
||
Chen X,
|
||
Henry C,
|
||
Filhol E,
|
||
Martin Y,
|
||
Avramescu M,
|
||
Douillet M,
|
||
Morinière V,
|
||
Krug P,
|
||
Jeanpierre C,
|
||
Tory K,
|
||
Boyer O,
|
||
Burgun A,
|
||
Servais A,
|
||
Salomon R,
|
||
Benmerah A,
|
||
Heidet L,
|
||
Garcelon N,
|
||
Antignac C,
|
||
Zaidan M,
|
||
Saunier S;
|
||
INSERM–Necker Hospital NPH collaborative group</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2023 Aug;104(2):378-387.
|
||
Epub 2023 May 23
|
||
doi: 10.1016/j.kint.2023.05.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37230223" target="_blank">37230223</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35134221">An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Müller RU,
|
||
Messchendorp AL,
|
||
Birn H,
|
||
Capasso G,
|
||
Cornec-Le Gall E,
|
||
Devuyst O,
|
||
van Eerde A,
|
||
Guirchoun P,
|
||
Harris T,
|
||
Hoorn EJ,
|
||
Knoers NVAM,
|
||
Korst U,
|
||
Mekahli D,
|
||
Le Meur Y,
|
||
Nijenhuis T,
|
||
Ong ACM,
|
||
Sayer JA,
|
||
Schaefer F,
|
||
Servais A,
|
||
Tesar V,
|
||
Torra R,
|
||
Walsh SB,
|
||
Gansevoort RT</span><br />
|
||
<span class="medgenPMjournal">Nephrol Dial Transplant</span>
|
||
2022 Apr 25;37(5):825-839.
|
||
doi: 10.1093/ndt/gfab312.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35134221" target="_blank">35134221</a><a href="/pmc/articles/PMC9035348" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29038287">Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cornec-Le Gall E,
|
||
Torres VE,
|
||
Harris PC</span><br />
|
||
<span class="medgenPMjournal">J Am Soc Nephrol</span>
|
||
2018 Jan;29(1):13-23.
|
||
Epub 2017 Oct 16
|
||
doi: 10.1681/ASN.2017050483.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29038287" target="_blank">29038287</a><a href="/pmc/articles/PMC5748917" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27499327">Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carrera P,
|
||
Calzavara S,
|
||
Magistroni R,
|
||
den Dunnen JT,
|
||
Rigo F,
|
||
Stenirri S,
|
||
Testa F,
|
||
Messa P,
|
||
Cerutti R,
|
||
Scolari F,
|
||
Izzi C,
|
||
Edefonti A,
|
||
Negrisolo S,
|
||
Benetti E,
|
||
Alibrandi MT,
|
||
Manunta P,
|
||
Boletta A,
|
||
Ferrari M</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2016 Aug 8;6:30850.
|
||
doi: 10.1038/srep30850.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27499327" target="_blank">27499327</a><a href="/pmc/articles/PMC4976333" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polycystic%20kidney%20disease%205%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1272)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34507795">Autosomal recessive polycystic kidney disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Society for Maternal-Fetal Medicine (SMFM),
|
||
Swanson K</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2021 Nov;225(5):B7-B8.
|
||
Epub 2021 Sep 8
|
||
doi: 10.1016/j.ajog.2021.06.038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34507795" target="_blank">34507795</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32690722">Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lanktree MB,
|
||
Haghighi A,
|
||
di Bari I,
|
||
Song X,
|
||
Pei Y</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polycystic%20kidney%20disease%205%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (664)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/23121377">Tolvaptan in patients with autosomal dominant polycystic kidney disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Torres VE,
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Chapman AB,
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Devuyst O,
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Gansevoort RT,
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Grantham JJ,
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Higashihara E,
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Perrone RD,
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Krasa HB,
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Ouyang J,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polycystic%20kidney%20disease%205%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (751)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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|
||
<span class="bold">PMID: </span><a href="/pubmed/21641282" target="_blank">21641282</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polycystic%20kidney%20disease%205%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (23)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4539903%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C4539903%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (12)</a></li>
|
||
<li><a href="/gtr/tests?term=C4539903%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4539903%5bDISCUI%5d" target="_blank">See all (14)</a></total></li>
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