{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T18:30:10Z","timestamp":1774290610071,"version":"3.50.1"},"reference-count":8,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T00:00:00Z","timestamp":1774224000000},"content-version":"vor","delay-in-days":22,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,3,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Progressive familial intrahepatic cholestasis (PFIC) is an inherited disorder affecting bile acid secretion, with a heterogenous clinical presentation including pruritus, jaundice, growth failure, hepatosplenomegaly, and cirrhosis. Most patients present in infancy or early childhood, leading to progressive liver disease and potentially liver failure, often requiring liver transplantation. We present a 14-year-old girl with incidentally detected cholestasis. She had no previous jaundice, abdominal pain, clay stools, or pruritus. Hypergammaglobulinemia and a positive antinuclear antibody titer was found on testing. Liver biopsy revealed bile duct destruction and interface hepatitis, which initially led us to suspect an autoimmune hepatitis-primary sclerosing cholangitis overlap. However, her poor response to steroids over 6\u00a0weeks led us to perform whole exome sequencing, which found a homozygous mutations of KIF12(\u2212) gene at intron 9, suggestive of PFIC-8. This case highlights the importance of genetic testing in atypical cholestasis, particularly in adolescents who do not respond to empirical therapy.<\/jats:p>","DOI":"10.1093\/omcr\/omag022","type":"journal-article","created":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T17:42:58Z","timestamp":1774287778000},"source":"Crossref","is-referenced-by-count":0,"title":["Cholestatic liver disease in an adolescent: don\u2019t forget progressive familial intrahepatic Cholestasis-8"],"prefix":"10.1093","volume":"2026","author":[{"given":"Pragathi","family":"LK","sequence":"first","affiliation":[{"name":"Department of Pediatric Gastroenterology and Hepatology, Bai Jerbai Wadia Hospital for Children , Acharya Dhonde Marg, Parel, Mumbai 400012, Maharashtra ,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samriddhi","family":"Poyekar","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology and Hepatology, Bai Jerbai Wadia Hospital for Children , Acharya Dhonde Marg, Parel, Mumbai 400012, Maharashtra ,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-7249-7955","authenticated-orcid":false,"given":"Dhruv","family":"Gandhi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology and Hepatology, Bai Jerbai Wadia Hospital for Children , Acharya Dhonde Marg, Parel, Mumbai 400012, Maharashtra ,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sachi","family":"Kalawadia","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology and Hepatology, Bai Jerbai Wadia Hospital for Children , Acharya Dhonde Marg, Parel, Mumbai 400012, Maharashtra ,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ira","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology and Hepatology, Bai Jerbai Wadia Hospital for Children , Acharya Dhonde Marg, Parel, Mumbai 400012, Maharashtra ,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2026,3,23]]},"reference":[{"key":"2026032313425417400_ref1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/1750-1172-4-1","article-title":"Progressive familial intrahepatic cholestasis","volume":"4","author":"Davit-Spraul","year":"2009","journal-title":"Orphanet J Rare Dis"},{"key":"2026032313425417400_ref2","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1016\/j.clinre.2018.07.010","article-title":"Systematic review of progressive familial intrahepatic cholestasis","volume":"43","author":"Baker","year":"2019","journal-title":"Clin Res Hepatol Gastroenterol"},{"key":"2026032313425417400_ref3","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1002\/hep4.1320","article-title":"Recessive mutations in KIF12 cause high gamma-Glutamyltransferase cholestasis","volume":"3","author":"\u00dcnl\u00fcsoy Aksu","year":"2019","journal-title":"Hepatol Commun"},{"key":"2026032313425417400_ref4","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1016\/j.jpeds.2021.09.019","article-title":"KIF12 variants and disturbed hepatocyte polarity in children with a phenotypic Spectrum of Cholestatic liver disease","volume":"240","author":"Stalke","year":"2022","journal-title":"J Pediatr"},{"key":"2026032313425417400_ref5","doi-asserted-by":"publisher","first-page":"450","DOI":"10.4254\/wjh.v11.i5.450","article-title":"Expanding etiology of progressive familial intrahepatic cholestasis","volume":"11","author":"Henkel","year":"2019","journal-title":"World J Hepatol"},{"key":"2026032313425417400_ref6","doi-asserted-by":"publisher","first-page":"477","DOI":"10.51821\/84.3.013","article-title":"Triggers of benign recurrent intrahepatic cholestasis and its pathophysiology: a review of literature","volume":"84","author":"Halawi","year":"2021","journal-title":"Acta Gastroenterol Belg"},{"key":"2026032313425417400_ref7","doi-asserted-by":"publisher","first-page":"e365","DOI":"10.1016\/S2352-3026(21)00056-9","article-title":"Polyclonal hypergammaglobulinaemia: assessment, clinical interpretation, and management","volume":"8","author":"Zhao","year":"2021","journal-title":"Lancet Haematol"},{"key":"2026032313425417400_ref8","doi-asserted-by":"publisher","first-page":"1164","DOI":"10.1038\/s41436-018-0288-x","article-title":"Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants","volume":"21","author":"Maddirevula","year":"2019","journal-title":"Genet Med"}],"container-title":["Oxford Medical Case 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