{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,2]],"date-time":"2025-10-02T00:34:58Z","timestamp":1759365298035,"version":"build-2065373602"},"reference-count":28,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,9,17]]},"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:p>This case report illustrates a rare case of progressive familial intrahepatic cholestasis type 3. Pruritus was the predominant symptom that led to the diagnosis of this condition in an otherwise healthy adolescent. The onset of symptoms can happen at any age, and the diagnosis may be delayed due to a lack of severe symptoms. Genetic testing confirms the diagnosis. Therapy with ursodeoxycholic acid is recommended, and other anti-pruritic medications can be adjuvant. Disease progression should be monitored.<\/jats:p>","DOI":"10.1136\/bcr-2025-265416","type":"journal-article","created":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T06:15:25Z","timestamp":1759299325000},"page":"e265416","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Comprehensive overview of progressive familial intrahepatic cholestasis type 3 and the importance of pruritus as a diagnostic clue"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-5572-1191","authenticated-orcid":false,"given":"Catarina","family":"Nunes","sequence":"first","affiliation":[{"name":"Department of Paediatrics, Hospital Professor Doutor Fernando Fonseca EPE, Amadora, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lu\u00edsa","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Hospital Professor Doutor Fernando Fonseca EPE, Amadora, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Torre","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Hospital Professor Doutor Fernando Fonseca EPE, Amadora, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2755-3513","authenticated-orcid":false,"given":"Cristina","family":"Gon\u00e7alves","sequence":"additional","affiliation":[{"name":"Hospital Dona Estef\u00e2nia, Lisbon, Lisbon, Portugal"},{"name":"Unidade de Transplanta\u00e7\u00e3o Hep\u00e1tica - PA, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,9,30]]},"reference":[{"key":"2025093023151385000_18.9.e265416.1","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2014.00065","article-title":"Diversity of disorders causing neonatal cholestasis - the experience of a tertiary pediatric center in Germany","volume":"2","author":"Hoerning","year":"2014","journal-title":"Front Pediatr"},{"key":"2025093023151385000_18.9.e265416.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jceh.2013.10.005"},{"key":"2025093023151385000_18.9.e265416.3","doi-asserted-by":"publisher","DOI":"10.1055\/s-2001-19033"},{"key":"2025093023151385000_18.9.e265416.4","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-4-1"},{"key":"2025093023151385000_18.9.e265416.5","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.1.282"},{"key":"2025093023151385000_18.9.e265416.6","doi-asserted-by":"publisher","DOI":"10.1016\/S1089-3261(05)70139-2"},{"key":"2025093023151385000_18.9.e265416.7","doi-asserted-by":"publisher","DOI":"10.1055\/s-2001-19034"},{"key":"2025093023151385000_18.9.e265416.8","doi-asserted-by":"publisher","DOI":"10.1055\/s-0031-1286057"},{"key":"2025093023151385000_18.9.e265416.9","doi-asserted-by":"publisher","DOI":"10.1002\/hep.510260121"},{"key":"2025093023151385000_18.9.e265416.10","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1097\/MPG.0000000000000822","article-title":"Interobserver Agreement on Endoscopic Classification of Oesophageal Varices in Children","volume":"61","author":"D\u2019Antiga","year":"2015","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"2025093023151385000_18.9.e265416.11","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1016\/j.jhep.2020.04.036","article-title":"Variants in ABCB4 (MDR3) across the spectrum of cholestatic liver diseases in adults","volume":"73","author":"St\u00e4ttermayer","year":"2020","journal-title":"J Hepatol"},{"key":"2025093023151385000_18.9.e265416.12","doi-asserted-by":"publisher","DOI":"10.1053\/gast.2001.23984"},{"key":"2025093023151385000_18.9.e265416.13","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0b013e318036a569"},{"key":"2025093023151385000_18.9.e265416.14","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1007\/s12072-019-09948-1","article-title":"Biliary features in liver histology of children with autoimmune liver disease","volume":"13","author":"Di Giorgio","year":"2019","journal-title":"Hepatol Int"},{"key":"2025093023151385000_18.9.e265416.15","doi-asserted-by":"publisher","DOI":"10.1002\/hep.510250303"},{"key":"2025093023151385000_18.9.e265416.16","doi-asserted-by":"publisher","DOI":"10.1002\/hep.25748"},{"key":"2025093023151385000_18.9.e265416.17","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2009.04.009"},{"key":"2025093023151385000_18.9.e265416.18","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1159\/000360518","article-title":"Advances in pathogenesis and management of pruritus in cholestasis","volume":"32","author":"Kremer","year":"2014","journal-title":"Dig Dis"},{"key":"2025093023151385000_18.9.e265416.19","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1016\/S2468-1253(22)00093-0","article-title":"Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial","volume":"7","author":"Thompson","year":"2022","journal-title":"Lancet Gastroenterol Hepatol"},{"key":"2025093023151385000_18.9.e265416.20","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.1111\/apt.14579","article-title":"Low risk of hepatotoxicity from rifampicin when used for cholestatic pruritus: a cross\u2010disease cohort study","volume":"47","author":"Webb","year":"2018","journal-title":"Aliment Pharmacol Ther"},{"key":"2025093023151385000_18.9.e265416.21","doi-asserted-by":"publisher","DOI":"10.1111\/j.1572-0241.2007.01200.x"},{"key":"2025093023151385000_18.9.e265416.22","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1097\/MPG.0000000000001385","article-title":"Sertraline as an Additional Treatment for Cholestatic Pruritus in Children","volume":"64","author":"Th\u00e9baut","year":"2017","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"2025093023151385000_18.9.e265416.23","doi-asserted-by":"crossref","first-page":"666","DOI":"10.12659\/AOT.909941","article-title":"Liver Transplantation for Progressive Familial Intrahepatic Cholestasis","volume":"23","author":"Liu","year":"2018","journal-title":"Ann Transplant"},{"key":"2025093023151385000_18.9.e265416.24","doi-asserted-by":"publisher","DOI":"10.1111\/liv.15200"},{"key":"2025093023151385000_18.9.e265416.25","doi-asserted-by":"publisher","DOI":"10.1002\/hep.21287"},{"key":"2025093023151385000_18.9.e265416.26","unstructured":"Siddiqi IA , Tadi P . Progressive familial intrahepatic cholestasis. In: Statpearls. Treasure Island (FL): StatPearls Publishing, 2024. Available: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK559317\/"},{"key":"2025093023151385000_18.9.e265416.27","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1016\/S0168-8278(03)00049-7","article-title":"Progressive familial intrahepatic cholestasis type 3 revealed by oral contraceptive pills","volume":"38","author":"Ganne-Carri\u00e9","year":"2003","journal-title":"J Hepatol"},{"key":"2025093023151385000_18.9.e265416.28","unstructured":"PFIC Network . PFIC patient registry. 2025. Available: https:\/\/www.pfic.org\/get-involved\/pfic-patient-registry\/"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-265416","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T06:15:27Z","timestamp":1759299327000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-265416"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":28,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2025,9,30]]},"published-print":{"date-parts":[[2025,9]]}},"alternative-id":["10.1136\/bcr-2025-265416"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-265416","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9]]}}}