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<meta name="keywords" content="C0085548, ar polycystic kidney disease, ar-pkd, arpkd, arpkd - autosomal recessive polycystic kidney disease, autosomal recessive infantile polycystic kidney disease, autosomal recessive polycystic kidney, autosomal recessive polycystic kidney disease, disease or syndrome, infantile polycystic kidney disease, ipkd - infantile polycystic kidney disease, kidney, polycystic, autosomal recessive, pkd3, formerly, pkd4, pkhd1, polycystic kidney and hepatic disease 1, polycystic kidney and hepatic disease 1 (autosomal recessive), polycystic kidney disease 4 with or without hepatic disease, polycystic kidney disease 4 with or without polycystic liver disease, polycystic kidney disease, autosomal recessive, polycystic kidney disease, infantile type, polycystic kidney disease, infantile, type 1, polycystic kidney disease, infantile, type i, polycystic kidney, autosomal recessive, 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="Autosomal recessive polycystic kidney disease – PKHD1 (ARPKD-PKHD1) is characterized by primary involvement of the kidneys and liver with mostly secondary effects seen in other organ systems. Of the three ages of initial presentation of kidney disease, the two most common are perinatal (i.e., prenatal/neonatal) and infantile (four weeks to age one year) with the classic finding of enlarged kidneys. The major difference between the perinatal and infantile presentations, which typically have similar kidney and liver findings, is the frequent occurrence of pulmonary involvement in the perinatal presentation, which is a major cause of morbidity and mortality in neonates. The less common initial presentation in childhood (after age one year) to young adulthood can be associated with predominant hepatobiliary manifestations characterized by the clinical consequences of developmental anomalies of biliary ductal plate remodeling (also known as Caroli disease). Although the short-term and long-term mortality rates of ARPKD remain significant, the survival of individuals with ARPKD has improved with modern neonatal respiratory support, kidney replacement therapy (KRT) including dialysis and kidney transplantation (KTx), and liver transplantation (LTx) or combined liver and kidney transplantation (CLKTx)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=39076
|
||
ConceptID=C0085548
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Autosomal recessive polycystic kidney disease<span class="h1sub">(ARPKD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39076</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0085548</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>AR polycystic kidney disease; ARPKD; POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; Polycystic kidney disease, infantile type; POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Autosomal recessive polycystic kidney disease (28770003); Infantile polycystic kidney disease (28770003); ARPKD - Autosomal recessive polycystic kidney disease (28770003); IPKD - Infantile polycystic kidney disease (28770003); Polycystic kidney disease, infantile type (28770003); Autosomal recessive infantile polycystic kidney disease (28770003)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/199221">DZIP1L</a>, <a target="_blank" href="/gene/5314">PKHD1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009889" target="_blank">MONDO:0009889</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/263200" target="_blank">263200</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=731">ORPHA731</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
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<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1326" target="_blank">Autosomal Recessive Polycystic Kidney Disease – PKHD1</a></div><div>Autosomal recessive polycystic kidney disease – PKHD1 (ARPKD-PKHD1) is characterized by primary involvement of the kidneys and liver with mostly secondary effects seen in other organ systems. Of the three ages of initial presentation of kidney disease, the two most common are perinatal (i.e., prenatal/neonatal) and infantile (four weeks to age one year) with the classic finding of enlarged kidneys. The major difference between the perinatal and infantile presentations, which typically have similar kidney and liver findings, is the frequent occurrence of pulmonary involvement in the perinatal presentation, which is a major cause of morbidity and mortality in neonates. The less common initial presentation in childhood (after age one year) to young adulthood can be associated with predominant hepatobiliary manifestations characterized by the clinical consequences of developmental anomalies of biliary ductal plate remodeling (also known as Caroli disease). Although the short-term and long-term mortality rates of ARPKD remain significant, the survival of individuals with ARPKD has improved with modern neonatal respiratory support, kidney replacement therapy (KRT) including dialysis and kidney transplantation (KTx), and liver transplantation (LTx) or combined liver and kidney transplantation (CLKTx). [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1326#pkd-ar.Summary" target="NBK1326">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1326#pkd-ar.GeneReview_Scope" target="NBK1326">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1326#pkd-ar.Diagnosis" target="NBK1326">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1326#pkd-ar.Clinical_Characteristics" target="NBK1326">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1326#pkd-ar.Genetically_Related_Allelic_Disor" target="NBK1326">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1326#pkd-ar.Differential_Diagnosis" target="NBK1326">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1326#pkd-ar.Management" target="NBK1326">Management</a> | <a class="medgenPMinfo" href="/books/NBK1326#pkd-ar.Genetic_Counseling" target="NBK1326">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1326#pkd-ar.Resources" target="NBK1326">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1326#pkd-ar.Molecular_Genetics" target="NBK1326">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1326#pkd-ar.Chapter_Notes" target="NBK1326">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1326#pkd-ar.References" target="NBK1326">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Kathrin Burgmaier | Charlotte Gimpel | Franz Schaefer<i>, et. al.</i> <a href="/books/NBK1326" target="NBK1326" title="NCBI Bookshelf: Autosomal Recessive Polycystic Kidney Disease – PKHD1">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />The two major forms of polycystic kidney disease are distinguished by the usual age of onset and the pattern in which it is passed through families. The autosomal dominant form (sometimes called ADPKD) has signs and symptoms that typically begin in adulthood, although cysts in the kidney are often present from birth or childhood. Autosomal dominant polycystic kidney disease can be further divided into type 1 and type 2, depending on the genetic cause. The autosomal recessive form of polycystic kidney disease (sometimes called ARPKD) is much rarer and is often lethal early in life. The signs and symptoms of this condition are usually apparent at birth or in early infancy.<br /><br />Frequent complications of polycystic kidney disease include dangerously high blood pressure (hypertension), pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities. Additionally, people with polycystic kidney disease have an increased risk of an abnormal bulging (an aneurysm) in a large blood vessel called the aorta or in blood vessels at the base of the brain. Aneurysms can be life-threatening if they tear or rupture.<br /><br />Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver. <a target="_blank" href="https://medlineplus.gov/genetics/condition/polycystic-kidney-disease">https://medlineplus.gov/genetics/condition/polycystic-kidney-disease</a></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><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=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">Autosomal recessive polycystic kidney disease</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="TLclosed"><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"><a href="/medgen/1624679" ref="tree=GTR&ncbi_uid=1624679&link_uid=1624679" title="View MedGen record for 'Polycystic kidney disease 5'">Polycystic kidney disease 5</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842297" ref="tree=MeSH" title="MedGen record for Familial cystic renal disease">Familial cystic renal disease</a></span><ul><li><span class="matched_ds">Autosomal recessive polycystic kidney disease</span><ul><li><span class="TLline"><a href="/medgen/1621793" ref="tree=MeSH" title="MedGen record for Polycystic kidney disease 4">Polycystic kidney disease 4</a></span></li><li><span class="TLline"><a href="/medgen/1624679" ref="tree=MeSH" title="MedGen record for Polycystic kidney disease 5">Polycystic kidney disease 5</a></span></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=97&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Autosomal recessive polycystic kidney disease</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38097335">Autosomal Recessive Polycystic Kidney Disease: Diagnosis, Prognosis, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Burgmaier K,
|
||
Broekaert IJ,
|
||
Liebau MC</span><br />
|
||
<span class="medgenPMjournal">Adv Kidney Dis Health</span>
|
||
2023 Sep;30(5):468-476.
|
||
doi: 10.1053/j.akdh.2023.01.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38097335" target="_blank">38097335</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33418012">Diagnosis and Management of Renal Cystic Disease of the Newborn: Core Curriculum 2021.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raina R,
|
||
Chakraborty R,
|
||
Sethi SK,
|
||
Kumar D,
|
||
Gibson K,
|
||
Bergmann C</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2021 Jul;78(1):125-141.
|
||
Epub 2021 Jan 6
|
||
doi: 10.1053/j.ajkd.2020.10.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33418012" target="_blank">33418012</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=(%22autosomal%20recessive%20polycystic%20kidney%20disease%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (32)</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/38097335">Autosomal Recessive Polycystic Kidney Disease: Diagnosis, Prognosis, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Burgmaier K,
|
||
Broekaert IJ,
|
||
Liebau MC</span><br />
|
||
<span class="medgenPMjournal">Adv Kidney Dis Health</span>
|
||
2023 Sep;30(5):468-476.
|
||
doi: 10.1053/j.akdh.2023.01.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38097335" target="_blank">38097335</a></div>
|
||
|
||
<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/33940108">Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Burgmaier K,
|
||
Brinker L,
|
||
Erger F,
|
||
Beck BB,
|
||
Benz MR,
|
||
Bergmann C,
|
||
Boyer O,
|
||
Collard L,
|
||
Dafinger C,
|
||
Fila M,
|
||
Kowalewska C,
|
||
Lange-Sperandio B,
|
||
Massella L,
|
||
Mastrangelo A,
|
||
Mekahli D,
|
||
Miklaszewska M,
|
||
Ortiz-Bruechle N,
|
||
Patzer L,
|
||
Prikhodina L,
|
||
Ranchin B,
|
||
Ranguelov N,
|
||
Schild R,
|
||
Seeman T,
|
||
Sever L,
|
||
Sikora P,
|
||
Szczepanska M,
|
||
Teixeira A,
|
||
Thumfart J,
|
||
Uetz B,
|
||
Weber LT,
|
||
Wühl E,
|
||
Zerres K;
|
||
ESCAPE Study group;
|
||
GPN study group,
|
||
Dötsch J,
|
||
Schaefer F,
|
||
Liebau MC;
|
||
ARegPKD consortium</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2021 Sep;100(3):650-659.
|
||
Epub 2021 Apr 30
|
||
doi: 10.1016/j.kint.2021.04.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33940108" target="_blank">33940108</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33125856">Prevalence, risk factors and disease knowledge of polycystic kidney disease in Pakistan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zahid R,
|
||
Akram M,
|
||
Rafique E</span><br />
|
||
<span class="medgenPMjournal">Int J Immunopathol Pharmacol</span>
|
||
2020 Jan-Dec;34:2058738420966083.
|
||
doi: 10.1177/2058738420966083.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33125856" target="_blank">33125856</a><a href="/pmc/articles/PMC7607775" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19914852">PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gunay-Aygun M,
|
||
Tuchman M,
|
||
Font-Montgomery E,
|
||
Lukose L,
|
||
Edwards H,
|
||
Garcia A,
|
||
Ausavarat S,
|
||
Ziegler SG,
|
||
Piwnica-Worms K,
|
||
Bryant J,
|
||
Bernardini I,
|
||
Fischer R,
|
||
Huizing M,
|
||
Guay-Woodford L,
|
||
Gahl WA</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2010 Feb;99(2):160-73.
|
||
Epub 2009 Oct 20
|
||
doi: 10.1016/j.ymgme.2009.10.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19914852" target="_blank">19914852</a><a href="/pmc/articles/PMC2818513" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20polycystic%20kidney%20disease%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 (159)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35032595">The genetics of Autosomal Recessive Polycystic Kidney Disease (ARPKD).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goggolidou P,
|
||
Richards T</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta Mol Basis Dis</span>
|
||
2022 Apr 1;1868(4):166348.
|
||
Epub 2022 Jan 12
|
||
doi: 10.1016/j.bbadis.2022.166348.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35032595" target="_blank">35032595</a></div>
|
||
|
||
<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/33995794">Congenital hepatic fibrosis: case report and review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hasbaoui BE,
|
||
Rifai Z,
|
||
Saghir S,
|
||
Ayad A,
|
||
Lamalmi N,
|
||
Abilkassem R,
|
||
Agadr A</span><br />
|
||
<span class="medgenPMjournal">Pan Afr Med J</span>
|
||
2021;38:188.
|
||
Epub 2021 Feb 18
|
||
doi: 10.11604/pamj.2021.38.188.27941.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33995794" target="_blank">33995794</a><a href="/pmc/articles/PMC8106784" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33418012">Diagnosis and Management of Renal Cystic Disease of the Newborn: Core Curriculum 2021.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raina R,
|
||
Chakraborty R,
|
||
Sethi SK,
|
||
Kumar D,
|
||
Gibson K,
|
||
Bergmann C</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2021 Jul;78(1):125-141.
|
||
Epub 2021 Jan 6
|
||
doi: 10.1053/j.ajkd.2020.10.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33418012" target="_blank">33418012</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30523303">Polycystic kidney disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bergmann C,
|
||
Guay-Woodford LM,
|
||
Harris PC,
|
||
Horie S,
|
||
Peters DJM,
|
||
Torres VE</span><br />
|
||
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20polycystic%20kidney%20disease%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (280)</a></div><h3 class="subhead">Therapy</h3>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20polycystic%20kidney%20disease%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (105)</a></div></div>
|
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</div>
|
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|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/34386850">Systematic review on outcomes used in clinical research on autosomal recessive polycystic kidney disease-are patient-centered outcomes our blind spot?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gimpel C,
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Liebau MC,
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Schaefer F</span><br />
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Epub 2021 Aug 12
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doi: 10.1007/s00467-021-05192-8.
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<span class="bold">PMID: </span><a href="/pubmed/34386850" target="_blank">34386850</a><a href="/pmc/articles/PMC8599334" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20polycystic%20kidney%20disease%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 (1)</a></div></div>
|
||
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|
||
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|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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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_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0085548%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (48)</a></li>
|
||
<li><a href="/gtr/tests?term=C0085548%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C0085548%5bDISCUI%5d&filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0085548%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0085548%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0085548%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (21)</a></li>
|
||
<li><a href="/gtr/tests?term=C0085548%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (80)</a></li>
|
||
<li><a href="/gtr/tests?term=C0085548%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (30)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0085548%5bDISCUI%5d" target="_blank">See all (87)</a></total></li>
|
||
</ul></div>
|
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</div>
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=731" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Autosomal%20recessive%20polycystic%20kidney%20disease" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22autosomal%20recessive%20polycystic%20kidney%20disease%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Autosomal%20recessive%20polycystic%20kidney%20disease%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet mgSection" id="ID_116">
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Autosomal+Recessive+Polycystic+Kidney+Disease/691" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/polycystic_kidney_disease_4_with_or_without_polycystic_liver_disease" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Autosomal%20recessive%20polycystic%20kidney%20disease" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/polycystic-kidney-disease" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/8378/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/20301501" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=39076" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=39076" ref="log$=recordlinks">PubMed (OMIM)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca6c54a68b6b5afc6db22d">Autosomal recessive polycystic kidney disease</a>
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<div class="ralinkpop offscreen_noflow">Autosomal recessive polycystic kidney disease<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67ca6c53b15b832ebc02d303">C0085548[conceptid] <span class="number">(1)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67ca6c52f4a390645e3a33ab">C1857750[trait identifier] AND "Labcorp Genetics (formerly Invita... <span class="number">(152)</span></a>
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<div class="ralinkpop offscreen_noflow">C1857750[trait identifier] AND "Labcorp Genetics (formerly Invitae), Labcorp"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67ca6c51f4a390645e3a2b09">Autosomal recessive nonsyndromic hearing loss 66</a>
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