{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T04:21:03Z","timestamp":1790914863774,"version":"4.1.0"},"reference-count":42,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000098","name":"NIH Clinical Center","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000098","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. pediatr. gastroenterol. nutr."],"published-print":{"date-parts":[[2012,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objectives:<\/jats:title><jats:p>Autosomal dominant (ADPKD) and recessive (ARPKD) polycystic kidney diseases are the most common hepatorenal fibrocystic diseases (ciliopathies). Characteristics of liver disease of these disorders are quite different. All of the patients with ARPKD have congenital hepatic fibrosis (CHF) often complicated by portal hypertension. In contrast, typical liver involvement in ADPKD is polycystic liver disease, although rare atypical cases with CHF are reported. Our goal was to describe the characteristics of CHF in ADPKD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and Methods:<\/jats:title><jats:p>As a part of an intramural study of the National Institutes of Health on ciliopathies (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/www.clinicaltrials.gov\">www.clinicaltrials.gov<\/jats:ext-link>, trial NCT00068224), we evaluated 8 patients from 3 ADPKD families with CHF. We present their clinical, biochemical, imaging, and <jats:italic>PKD1<\/jats:italic> and <jats:italic>PKHD1<\/jats:italic> sequencing results. In addition, we tabulate the characteristics of 15 previously reported patients with ADPKD\u2010CHF from 11 families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>In all of the 19 patients with ADPKD\u2010CHF (9 boys, 10 girls), portal hypertension was the main manifestation of CHF; hepatocelllular function was preserved and liver enzymes were largely normal. In all of the 14 families, CHF was not inherited vertically, that is the parents of the index cases had PKD but did not have CHF\u2010suggesting modifier gene(s). Our 3 families had pathogenic mutations in <jats:italic>PKD1<\/jats:italic>; sequencing of the <jats:italic>PKHD1<\/jats:italic> gene as a potential modifier did not reveal any mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>Characteristics of CHF in ADPKD are similar to CHF in ARPKD. ADPKD\u2010CHF is caused by <jats:italic>PKD1<\/jats:italic> mutations, with probable contribution from modifying gene(s). Given that both boys and girls are affected, these modifier(s) are likely located on autosomal chromosome(s) and less likely X\u2010linked.<\/jats:p><\/jats:sec>","DOI":"10.1097\/mpg.0b013e318228330c","type":"journal-article","created":{"date-parts":[[2011,6,18]],"date-time":"2011-06-18T12:22:35Z","timestamp":1308399755000},"page":"83-89","source":"Crossref","is-referenced-by-count":41,"title":["Congenital Hepatic Fibrosis and Portal Hypertension in Autosomal Dominant Polycystic Kidney Disease"],"prefix":"10.1002","volume":"54","author":[{"given":"Kevin","family":"O'Brien","sequence":"first","affiliation":[{"name":"Section on Human Biochemical Genetics Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda MD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esperanza","family":"Font\u2010Montgomery","sequence":"additional","affiliation":[{"name":"Section on Human Biochemical Genetics Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda MD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Lukose","sequence":"additional","affiliation":[{"name":"Section on Human Biochemical Genetics Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda MD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joy","family":"Bryant","sequence":"additional","affiliation":[{"name":"Section on Human Biochemical Genetics Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda MD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katie","family":"Piwnica\u2010Worms","sequence":"additional","affiliation":[{"name":"Section on Human Biochemical Genetics Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda MD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hailey","family":"Edwards","sequence":"additional","affiliation":[{"name":"Section on Human Biochemical Genetics Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda MD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Riney","sequence":"additional","affiliation":[{"name":"Section on Human Biochemical Genetics Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda MD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelica","family":"Garcia","sequence":"additional","affiliation":[{"name":"Section on Human Biochemical Genetics Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda MD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kailash","family":"Daryanani","sequence":"additional","affiliation":[{"name":"National Institutes of Health Clinical Center Bethesda MD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Choyke","sequence":"additional","affiliation":[{"name":"Molecular Imaging Program National Cancer Institute National Institutes of Health Bethesda MD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parvathi","family":"Mohan","sequence":"additional","affiliation":[{"name":"Children's National Medical Center Washington DC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theo","family":"Heller","sequence":"additional","affiliation":[{"name":"National Institute of Diabetes and Digestive and Kidney Diseases National Institutes of Health Bethesda MD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[{"name":"Section on Human Biochemical Genetics Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda MD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meral","family":"Gunay\u2010Aygun","sequence":"additional","affiliation":[{"name":"Section on Human Biochemical Genetics Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda MD"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,1]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.med.60.101707.125712"},{"key":"e_1_2_8_3_1","doi-asserted-by":"crossref","unstructured":"HarrisPC TorresVE.Polycystic kidney disease autosomal dominant. 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