{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T17:01:08Z","timestamp":1774285268580,"version":"3.50.1"},"reference-count":15,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,3,4]]},"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:p>Isolated hyperbilirubinaemia with normal liver enzymes is frequently attributed to Gilbert syndrome, but predominance of conjugated bilirubin warrants evaluation for inherited disorders of bilirubin transport. We report a genetically confirmed case of Dubin-Johnson syndrome in a young adult with a 10-year history of intermittent jaundice and persistently conjugated hyperbilirubinaemia, despite normal liver biochemistry and imaging. Extensive evaluation excluded haemolysis, viral hepatitis, autoimmune liver disease and structural biliary pathology. Targeted genetic testing identified a homozygous loss-of-function variant in the ABCC2 gene, establishing the diagnosis. The patient required no specific treatment and remained clinically stable on follow-up. This case emphasises the importance of recognising Dubin-Johnson syndrome in long-standing conjugated hyperbilirubinaemia and the role of genetic testing in avoiding unnecessary invasive investigations in this benign, non-progressive condition.<\/jats:p>","DOI":"10.1136\/bcr-2026-272135","type":"journal-article","created":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T16:10:18Z","timestamp":1774282218000},"page":"e272135","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Genetically confirmed Dubin-Johnson syndrome presenting as long-standing isolated conjugated hyperbilirubinaemia"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-3792-7128","authenticated-orcid":false,"given":"Trung","family":"Huynh Van","sequence":"first","affiliation":[{"name":"Center for Gastrointestinal Endoscopy and Endoscopic Surgery, Tam Anh General Hospital, Ho Chi Minh City, Viet Nam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-3237-4282","authenticated-orcid":false,"given":"Long Hoang","family":"Doan","sequence":"additional","affiliation":[{"name":"Center for Gastrointestinal Endoscopy and Endoscopic Surgery, Tam Anh General Hospital, Ho Chi Minh City, Viet Nam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-0628-1260","authenticated-orcid":false,"given":"Trinh","family":"Nguyen Tran Tuyet","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Ho Chi Minh City, Viet Nam"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2026,3,23]]},"reference":[{"key":"2026032309100713000_19.3.e272135.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(02)00359-8"},{"key":"2026032309100713000_19.3.e272135.2","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2014.03.047"},{"key":"2026032309100713000_19.3.e272135.3","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1159\/000450911","article-title":"Progress in the Molecular Characterization of Hepatobiliary Transporters","volume":"35","author":"Keppler","year":"2017","journal-title":"Dig Dis"},{"key":"2026032309100713000_19.3.e272135.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpg.2010.07.007"},{"key":"2026032309100713000_19.3.e272135.5","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v19.i38.6398"},{"key":"2026032309100713000_19.3.e272135.6","unstructured":"Hoffbrand AV . Hoffbrand\u2019s essential hematology. 8th edn. Hoboken (NJ): John Wiley & Sons, 2024."},{"key":"2026032309100713000_19.3.e272135.7","doi-asserted-by":"publisher","DOI":"10.1172\/JCI59526"},{"key":"2026032309100713000_19.3.e272135.8","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1186\/s13023-020-1346-4","article-title":"A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin\u2013Johnson syndrome in China","volume":"15","author":"Wu","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"2026032309100713000_19.3.e272135.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2009.04.009"},{"key":"2026032309100713000_19.3.e272135.10","doi-asserted-by":"publisher","DOI":"10.1007\/s00424-006-0109-y"},{"key":"2026032309100713000_19.3.e272135.11","first-page":"83","article-title":"Expert Consensus on the Diagnosis and Management of Inherited Hyperbilirubinemia (2025)","volume":"14","author":"Zheng","year":"2026","journal-title":"J Clin Transl Hepatol"},{"key":"2026032309100713000_19.3.e272135.12","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.jpeds.2017.12.058","article-title":"Clinical, Pathologic, and Genetic Features of Neonatal Dubin-Johnson Syndrome: A Multicenter Study in Japan","volume":"196","author":"Togawa","year":"2018","journal-title":"J Pediatr"},{"key":"2026032309100713000_19.3.e272135.13","doi-asserted-by":"crossref","first-page":"878","DOI":"10.12998\/wjcc.v9.i4.878","article-title":"Clinical characteristics and ABCC2 genotype in Dubin-Johnson syndrome: A case report and review of the literature","volume":"9","author":"Wu","year":"2021","journal-title":"World J Clin Cases"},{"key":"2026032309100713000_19.3.e272135.14","article-title":"Dubin-Johnson Syndrome: A Case Report","volume":"15","author":"Siddiqui","year":"2023","journal-title":"Cureus"},{"key":"2026032309100713000_19.3.e272135.15","first-page":"188","article-title":"Dubin\u2013Johnson syndrome","volume":"18","author":"Ahmad Z.","year":"2008","journal-title":"J Coll Physicians Surg Pak"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2026-272135","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T16:10:19Z","timestamp":1774282219000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2026-272135"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3]]},"references-count":15,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2026,3,23]]},"published-print":{"date-parts":[[2026,3]]}},"alternative-id":["10.1136\/bcr-2026-272135"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2026-272135","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3]]}}}