{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T19:07:12Z","timestamp":1789153632277,"version":"build-2803163510"},"reference-count":21,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,8,24]]},"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:p>\n                    Low phospholipid-associated cholelithiasis (LPAC) is a cholestatic genetic disorder caused by mutations in the\n                    <jats:italic>ABCB4<\/jats:italic>\n                    gene, which encodes the multidrug resistance protein 3 (MDR3) that is crucial for bile phospholipid transport. We report a boy in late adolescence presenting with recurrent biliary symptoms post cholecystectomy, elevated cholestatic liver enzymes and a family history of hepatobiliary and pancreatic disease. Genetic testing revealed a novel heterozygous\n                    <jats:italic>ABCB4<\/jats:italic>\n                    variant (c.833+5G&gt;A). Functional studies demonstrated abnormal mRNA splicing, resulting in reduced MDR3 protein expression. The same variant was also identified in the patient\u2019s mother and sister, consistent with autosomal dominant inheritance. Following treatment with ursodeoxycholic acid, the patient achieved clinical and biochemical remission. This case highlights the importance of considering rarer genetic causes, including LPAC, in young patients with symptomatic cholelithiasis, particularly when there is a suggestive family history. Early recognition and targeted therapy can significantly improve clinical outcomes.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2025-267798","type":"journal-article","created":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T18:15:19Z","timestamp":1789150519000},"page":"e267798","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of a new, likely pathogenic, heterozygous\n                    <i>ABCB4<\/i>\n                    variant causing low phospholipid-associated cholelithiasis"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6279-5396","authenticated-orcid":false,"given":"Laurence","family":"Vaitiekunas","sequence":"first","affiliation":[{"name":"Sunshine Coast University Hospital, Birtinya, Queensland, Australia"},{"name":"Griffith University School of Medicine and Dentistry, Southport, Queensland, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"O\u2019Beirne","sequence":"additional","affiliation":[{"name":"Sunshine Coast University Hospital, Birtinya, Queensland, Australia"},{"name":"Griffith University School of Medicine and Dentistry, Southport, Queensland, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,9,11]]},"reference":[{"key":"2026091111150891000_19.9.e267798.1","doi-asserted-by":"publisher","DOI":"10.1053\/gast.2001.23947"},{"key":"2026091111150891000_19.9.e267798.2","doi-asserted-by":"publisher","DOI":"10.1016\/S0016-5085(03)00898-9"},{"key":"2026091111150891000_19.9.e267798.3","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1016\/j.gcb.2010.04.011","article-title":"The cholangiographic features of severe forms of ABCB4\/MDR3 deficiency-associated cholangiopathy in 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among patients with post-cholecystectomy biliary pain","volume":"94","author":"Trinh","year":"2024","journal-title":"ANZ J Surg"},{"key":"2026091111150891000_19.9.e267798.11","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1016\/j.dld.2013.04.002","article-title":"Prevalence of low phospholipid-associated cholelithiasis in young female patients","volume":"45","author":"Condat","year":"2013","journal-title":"Dig Liver Dis"},{"key":"2026091111150891000_19.9.e267798.12","doi-asserted-by":"crossref","DOI":"10.1016\/j.jhepr.2020.100201","article-title":"Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities","volume":"3","author":"Dong","year":"2021","journal-title":"JHEP Rep"},{"key":"2026091111150891000_19.9.e267798.13","doi-asserted-by":"crossref","DOI":"10.3390\/jcm9051361","article-title":"Intrahepatic Cholestasis in Pregnancy: Review of the Literature","volume":"9","author":"Piechota","year":"2020","journal-title":"J Clin 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