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<meta name="keywords" content="C4748044, disease or syndrome, dnajb11, dnajb11 polycystic kidney disease, pkd6, polycystic kidney disease 6 with or without polycystic liver disease, polycystic kidney disease caused by mutation in dnajb11, 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 dominant polycystic kidney disease (ADPKD) is generally a late-onset multisystem disorder characterized by bilateral kidney cysts, liver cysts, and an increased risk of intracranial aneurysms. Other manifestations include: cysts in the pancreas, seminal vesicles, and arachnoid membrane; dilatation of the aortic root and dissection of the thoracic aorta; mitral valve prolapse; and abdominal wall hernias. Kidney manifestations include early-onset hypertension, kidney pain, and kidney insufficiency. Approximately 50% of individuals with ADPKD have end-stage kidney disease (ESKD) by age 60 years. The prevalence of liver cysts increases with age and occasionally results in clinically significant severe polycystic liver disease (PLD), most often in females. Overall, the prevalence of intracranial aneurysms is fivefold higher than in the general population and further increased in those with a positive family history of aneurysms or subarachnoid hemorrhage. There is substantial variability in the severity of kidney disease and other extra-kidney manifestations." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1648469
|
||
ConceptID=C4748044
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Polycystic kidney disease 6 with or without polycystic liver disease<span class="h1sub">(PKD6)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648469</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:">C4748044</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>PKD6; POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE</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="DNAJB11 - ID: 51726 - NCBI Gene" href="/gene/51726" class="medgenPMinfo">DNAJB11</a> (3q27.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0054842" target="_blank">MONDO:0054842</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/618061" target="_blank">618061</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_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/NBK1246" target="_blank">Polycystic Kidney Disease, Autosomal Dominant</a></div><div>Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset multisystem disorder characterized by bilateral kidney cysts, liver cysts, and an increased risk of intracranial aneurysms. Other manifestations include: cysts in the pancreas, seminal vesicles, and arachnoid membrane; dilatation of the aortic root and dissection of the thoracic aorta; mitral valve prolapse; and abdominal wall hernias. Kidney manifestations include early-onset hypertension, kidney pain, and kidney insufficiency. Approximately 50% of individuals with ADPKD have end-stage kidney disease (ESKD) by age 60 years. The prevalence of liver cysts increases with age and occasionally results in clinically significant severe polycystic liver disease (PLD), most often in females. Overall, the prevalence of intracranial aneurysms is fivefold higher than in the general population and further increased in those with a positive family history of aneurysms or subarachnoid hemorrhage. There is substantial variability in the severity of kidney disease and other extra-kidney manifestations. [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/NBK1246#pkd-ad.Summary" target="NBK1246">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1246#pkd-ad.Diagnosis" target="NBK1246">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1246#pkd-ad.Clinical_Characteristics" target="NBK1246">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1246#pkd-ad.Genetically_Related_Allelic_Disor" target="NBK1246">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1246#pkd-ad.Differential_Diagnosis" target="NBK1246">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1246#pkd-ad.Management" target="NBK1246">Management</a> | <a class="medgenPMinfo" href="/books/NBK1246#pkd-ad.Genetic_Counseling" target="NBK1246">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1246#pkd-ad.Resources" target="NBK1246">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1246#pkd-ad.Molecular_Genetics" target="NBK1246">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1246#pkd-ad.Chapter_Notes" target="NBK1246">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1246#pkd-ad.References" target="NBK1246">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Peter C Harris | Vicente E Torres <a href="/books/NBK1246" target="NBK1246" title="NCBI Bookshelf: Polycystic Kidney Disease, Autosomal Dominant">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 OMIM</strong><br />Polycystic kidney disease-6 is an autosomal dominant renal disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade. The cysts are generally small (less than 1 to 3 cm) and the kidneys are not massively enlarged. Some patients may have evidence of chronic interstitial fibrosis and about half develop liver cysts (summary by Cornec-Le Gall et al., 2018). The renal interstitial fibrosis suggests overlap with autosomal dominant tubulointerstitial kidney disease (ADTKD; see 162000) (summary by Devuyst et al., 2019).
|
||
For a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (173900). <a target="_blank" href="http://www.omim.org/entry/618061">http://www.omim.org/entry/618061</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<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_163428"><div><strong>Decreased glomerular filtration rate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163428</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.">C0853068</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163428">Feature record</a> | <a href="/medgen?term=%22Decreased%20glomerular%20filtration%20rate%22%5BClinical%20Features%5D%20OR%20163428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332529"><div><strong>Renal insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332529</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.">C1565489</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332529">Feature record</a> | <a href="/medgen?term=%22Renal%20insufficiency%22%5BClinical%20Features%5D%20OR%20332529%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_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_82761"><div><strong>Hepatic cysts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82761</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.">C0267834</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cystic lesion located in the liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82761">Feature record</a> | <a href="/medgen?term=%22Hepatic%20cysts%22%5BClinical%20Features%5D%20OR%2082761%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42280"><div><strong>Gout</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42280</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.">C0018099</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42280">Feature record</a> | <a href="/medgen?term=%22Gout%22%5BClinical%20Features%5D%20OR%2042280%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_82761" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic cysts</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_163428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased glomerular filtration rate</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_332529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal insufficiency</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><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42280" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gout</a></span></li></ul></li></ul></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/38958301">ACG Clinical Guideline: Focal Liver Lesions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frenette C,
|
||
Mendiratta-Lala M,
|
||
Salgia R,
|
||
Wong RJ,
|
||
Sauer BG,
|
||
Pillai A</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2024 Jul 1;119(7):1235-1271.
|
||
Epub 2024 Jan 26
|
||
doi: 10.14309/ajg.0000000000002857.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38958301" target="_blank">38958301</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35728731">EASL Clinical Practice Guidelines on the management of cystic liver diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">European Association for the Study of the Liver</span><br />
|
||
<span class="medgenPMjournal">J Hepatol</span>
|
||
2022 Oct;77(4):1083-1108.
|
||
Epub 2022 Jun 18
|
||
doi: 10.1016/j.jhep.2022.06.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35728731" target="_blank">35728731</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34034501">A review of the diagnosis and management of liver hydatid cyst.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferrer Inaebnit E,
|
||
Molina Romero FX,
|
||
Segura Sampedro JJ,
|
||
González Argenté X,
|
||
Morón Canis JM</span><br />
|
||
<span class="medgenPMjournal">Rev Esp Enferm Dig</span>
|
||
2022 Jan;114(1):35-41.
|
||
doi: 10.17235/reed.2021.7896/2021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34034501" target="_blank">34034501</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(polycystic%20kidney%20disease%206%20with%20or%20without%20polycystic%20liver%20disease)%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 (172)</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/36719158">Tolvaptan for Children and Adolescents with Autosomal Dominant Polycystic Kidney Disease: Randomized Controlled Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mekahli D,
|
||
Guay-Woodford LM,
|
||
Cadnapaphornchai MA,
|
||
Greenbaum LA,
|
||
Litwin M,
|
||
Seeman T,
|
||
Dandurand A,
|
||
Shi L,
|
||
Sikes K,
|
||
Shoaf SE,
|
||
Schaefer F</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2023 Jan 1;18(1):36-46.
|
||
doi: 10.2215/CJN.0000000000000022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36719158" target="_blank">36719158</a><a href="/pmc/articles/PMC10101612" 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 class="nl"><a target="_blank" href="/pubmed/26718163">KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Psychosocial Care.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tong A,
|
||
Mallett A,
|
||
Lopez-Vargas P,
|
||
Rangan GK</span><br />
|
||
<span class="medgenPMjournal">Semin Nephrol</span>
|
||
2015 Nov;35(6):590-594.e5.
|
||
doi: 10.1016/j.semnephrol.2015.10.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26718163" target="_blank">26718163</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23431072">Type of PKD1 mutation influences renal outcome in ADPKD.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cornec-Le Gall E,
|
||
Audrézet MP,
|
||
Chen JM,
|
||
Hourmant M,
|
||
Morin MP,
|
||
Perrichot R,
|
||
Charasse C,
|
||
Whebe B,
|
||
Renaudineau E,
|
||
Jousset P,
|
||
Guillodo MP,
|
||
Grall-Jezequel A,
|
||
Saliou P,
|
||
Férec C,
|
||
Le Meur Y</span><br />
|
||
<span class="medgenPMjournal">J Am Soc Nephrol</span>
|
||
2013 May;24(6):1006-13.
|
||
Epub 2013 Feb 21
|
||
doi: 10.1681/ASN.2012070650.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23431072" target="_blank">23431072</a><a href="/pmc/articles/PMC3665389" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/930806">Polycystic kidney disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chester AC,
|
||
Harris JP,
|
||
Schreiner GE</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
1977 Dec;16(6):94-101.
|
||
<span class="bold">PMID: </span><a href="/pubmed/930806" target="_blank">930806</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polycystic%20kidney%20disease%206%20with%20or%20without%20polycystic%20liver%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 (1284)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33168999">Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Durkie M,
|
||
Chong J,
|
||
Valluru MK,
|
||
Harris PC,
|
||
Ong ACM</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2021 Apr;23(4):689-697.
|
||
Epub 2020 Nov 10
|
||
doi: 10.1038/s41436-020-01026-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33168999" target="_blank">33168999</a><a href="/pmc/articles/PMC9782736" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26718159">KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Screening for Polycystic Kidney Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rangan GK,
|
||
Lee VW,
|
||
Alexander SI,
|
||
Patel C,
|
||
Tunnicliffe DJ,
|
||
Vladica P</span><br />
|
||
<span class="medgenPMjournal">Semin Nephrol</span>
|
||
2015 Nov;35(6):557-564.e6.
|
||
doi: 10.1016/j.semnephrol.2015.10.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26718159" target="_blank">26718159</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26718157">KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Genetic Testing for Diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tchan M,
|
||
Savige J,
|
||
Patel C,
|
||
Mallett A,
|
||
Tong A,
|
||
Tunnicliffe DJ,
|
||
Rangan GK</span><br />
|
||
<span class="medgenPMjournal">Semin Nephrol</span>
|
||
2015 Nov;35(6):545-549.e2.
|
||
doi: 10.1016/j.semnephrol.2015.10.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26718157" target="_blank">26718157</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26718156">KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Imaging Approaches for Diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mai J,
|
||
Lee VW,
|
||
Lopez-Vargas P,
|
||
Vladica P</span><br />
|
||
<span class="medgenPMjournal">Semin Nephrol</span>
|
||
2015 Nov;35(6):538-544.e17.
|
||
doi: 10.1016/j.semnephrol.2015.10.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26718156" target="_blank">26718156</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/930806">Polycystic kidney disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chester AC,
|
||
Harris JP,
|
||
Schreiner GE</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
1977 Dec;16(6):94-101.
|
||
<span class="bold">PMID: </span><a href="/pubmed/930806" target="_blank">930806</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polycystic%20kidney%20disease%206%20with%20or%20without%20polycystic%20liver%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 (1142)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35328738">Autosomal Dominant Polycystic Kidney Disease: From Pathophysiology of Cystogenesis to Advances in the Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reiterová J,
|
||
Tesař V</span><br />
|
||
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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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Czerwiec FS;
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TEMPO 3:4 Trial Investigators</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/23121377" target="_blank">23121377</a><a href="/pmc/articles/PMC3760207" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polycystic%20kidney%20disease%206%20with%20or%20without%20polycystic%20liver%20disease%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 (837)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36573973">Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chang AR,
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<div class="nl"><a target="_blank" href="/pubmed/26150605">The PROPKD Score: A New Algorithm to Predict Renal Survival in Autosomal Dominant Polycystic Kidney Disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cornec-Le Gall E,
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Audrézet MP,
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Rousseau A,
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Hourmant M,
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Renaudineau E,
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Charasse C,
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Morin MP,
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Moal MC,
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Dantal J,
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Wehbe B,
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Perrichot R,
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Frouget T,
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Vigneau C,
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Potier J,
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Guillodo MP,
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Siohan P,
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Menoyo-Calonge V,
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<div class="nl"><a target="_blank" href="/pubmed/24904092">Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Irazabal MV,
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Rangel LJ,
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Bergstralh EJ,
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Osborn SL,
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Harmon AJ,
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Sundsbak JL,
|
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Bae KT,
|
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Chapman AB,
|
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Grantham JJ,
|
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Mrug M,
|
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Hogan MC,
|
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El-Zoghby ZM,
|
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Harris PC,
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Erickson BJ,
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King BF,
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Torres VE;
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CRISP Investigators</span><br />
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<span class="medgenPMjournal">J Am Soc Nephrol</span>
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2015 Jan;26(1):160-72.
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Epub 2014 Jun 5
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<span class="bold">PMID: </span><a href="/pubmed/24904092" target="_blank">24904092</a><a href="/pmc/articles/PMC4279733" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/23431072">Type of PKD1 mutation influences renal outcome in ADPKD.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cornec-Le Gall E,
|
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Audrézet MP,
|
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Chen JM,
|
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Hourmant M,
|
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Morin MP,
|
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Perrichot R,
|
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Charasse C,
|
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Whebe B,
|
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Renaudineau E,
|
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Jousset P,
|
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Guillodo MP,
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Grall-Jezequel A,
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Saliou P,
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Férec C,
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Le Meur Y</span><br />
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<span class="medgenPMjournal">J Am Soc Nephrol</span>
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2013 May;24(6):1006-13.
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<div class="nl"><a target="_blank" href="/pubmed/15698423">Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).</a></div>
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Senderek J,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polycystic%20kidney%20disease%206%20with%20or%20without%20polycystic%20liver%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 (772)</a></div></div>
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</div>
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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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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/37150675">The safety and efficacy of tolvaptan in the treatment of patients with autosomal dominant polycystic kidney disease: A systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Li X,
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Li W,
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Li Y,
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Dong C,
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Zhu P</span><br />
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<span class="medgenPMjournal">Nefrologia (Engl Ed)</span>
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2023 Nov-Dec;43(6):731-741.
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Epub 2023 May 5
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doi: 10.1016/j.nefroe.2023.04.002.
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||
<span class="bold">PMID: </span><a href="/pubmed/37150675" target="_blank">37150675</a></div>
|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/34538561">Neonatal multicystic dysplastic kidney with mass effect: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pettit S,
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Chalmers D</span><br />
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<span class="medgenPMjournal">J Pediatr Urol</span>
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2021 Dec;17(6):763-768.
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Epub 2021 Sep 11
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<span class="bold">PMID: </span><a href="/pubmed/34538561" target="_blank">34538561</a></div>
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||
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<div class="nl"><a target="_blank" href="/pubmed/29952039">Outcomes of patients with autosomal-dominant polycystic kidney disease on peritoneal dialysis: A meta-analysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Boonpheng B,
|
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Thongprayoon C,
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Wijarnpreecha K,
|
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Medaura J,
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Chebib FT,
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Cheungpasitporn W</span><br />
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<span class="medgenPMjournal">Nephrology (Carlton)</span>
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2019 Jun;24(6):638-646.
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Epub 2019 Apr 23
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<span class="bold">PMID: </span><a href="/pubmed/29952039" target="_blank">29952039</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27553859">Outcomes associated with fetal hepatobiliary cysts: systematic review and meta-analysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Leombroni M,
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Buca D,
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Celentano C,
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Liberati M,
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Bascietto F,
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Gustapane S,
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Marrone L,
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Manzoli L,
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Rizzo G,
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D'Antonio F</span><br />
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<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
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2017 Aug;50(2):167-174.
|
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Epub 2017 Jul 9
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||
doi: 10.1002/uog.17244.
|
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<span class="bold">PMID: </span><a href="/pubmed/27553859" target="_blank">27553859</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/21641282">Prevalence of unruptured intracranial aneurysms, with emphasis on sex, age, comorbidity, country, and time period: a systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Vlak MH,
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Algra A,
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Brandenburg R,
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Rinkel GJ</span><br />
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2011 Jul;10(7):626-36.
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<span class="bold">PMID: </span><a href="/pubmed/21641282" target="_blank">21641282</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polycystic%20kidney%20disease%206%20with%20or%20without%20polycystic%20liver%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 (37)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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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 id="my-toc"></ul></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=C4748044%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (12)</a></li>
|
||
<li><a href="/gtr/tests?term=C4748044%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (15)</a></li>
|
||
<li><a href="/gtr/tests?term=C4748044%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4748044%5bDISCUI%5d" target="_blank">See all (17)</a></total></li>
|
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</ul></div>
|
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<div class="portlet mgSection" id="ID_119">
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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="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=618061" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Polycystic%20kidney%20disease%206%20with%20or%20without%20polycystic%20liver%20disease" target="_blank">ClinicalTrials.gov</a></li></ul></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=(polycystic%20kidney%20disease%206%20with%20or%20without%20polycystic%20liver%20disease)%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></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=611341" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=51726[geneid]" target="_blank">View DNAJB11 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=618061" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<h3>Reviews</h3>
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<a href="/pubmed/20301424" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
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|
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<a href="/pubmed/clinical?term=Polycystic%20kidney%20disease%206%20with%20or%20without%20polycystic%20liver%20disease" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Polycystic%20kidney%20disease%206%20with%20or%20without%20polycystic%20liver%20disease%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<div class="portlet_content DiscoveryDbLinks">
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|
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<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648469" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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</li>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1648469" ref="log$=recordlinks">Gene</a>
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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</li>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4748044[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4748044[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1648469" ref="log$=recordlinks">OMIM</a>
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<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1648469" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1648469" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=1648469" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
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<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=1648469" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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Clear
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ccf632a68b6b5afccdbc48">Polycystic kidney disease 6 with or without polycystic liver disease</a>
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<div class="ralinkpop offscreen_noflow">Polycystic kidney disease 6 with or without polycystic liver disease<div class="brieflinkpopdesc"></div></div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67ccf630a68b6b5afccdb40b">C4748044[conceptid] <span class="number">(1)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67ccf62ff4a390645e9d76de">C4540575[trait identifier] AND "Revvity Omics, Revvity"[submitter... <span class="number">(75)</span></a>
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<div class="ralinkpop offscreen_noflow">C4540575[trait identifier] AND "Revvity Omics, Revvity"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67ccf62df4a390645e9d6812">C3887964[trait identifier] AND "Revvity Omics, Revvity"[submitter... <span class="number">(3)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67ccf62cb15b832ebc5431ea">C2751306[trait identifier] AND "Revvity Omics, Revvity"[submitter... <span class="number">(4)</span></a>
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<div class="ralinkpop offscreen_noflow">C2751306[trait identifier] AND "Revvity Omics, Revvity"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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