{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:40:07Z","timestamp":1745422807411,"version":"3.40.4"},"reference-count":12,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T00:00:00Z","timestamp":1743465600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T00:00:00Z","timestamp":1743465600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Rep Gastroenterol"],"abstract":"<jats:p>Introduction: Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by intermittent jaundice episodes. Case Presentation: We report a 25-year-old male patient with numerous hospitalizations for jaundice. The diagnosis of BRIC type 1 was established by liver biopsy, genetic analysis, and the exclusion of alternative etiologies of cholestasis. A novel missense heterozygous variant was identified in the ATP8B1 gene (c.2081T&gt;A). The acute cholestatic attack, along with associated complications such as distal renal tubular acidosis and acute pancreatitis, was successfully managed with plasmapheresis and rifampicin. Conclusion: Novel mutations that differ from those documented in the literature in combination with renal tubular acidosis may enhance our comprehension of this topic. <\/jats:p>","DOI":"10.1159\/000544786","type":"journal-article","created":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T16:09:19Z","timestamp":1743523759000},"page":"232-237","source":"Crossref","is-referenced-by-count":0,"title":["Benign Recurrent Intrahepatic Cholestasis Type 1 with Novel Gene Mutation Complicated by Distal Renal Tubular Acidosis: A Case Report"],"prefix":"10.1159","volume":"19","author":[{"given":"Van Huy","family":"Vo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7703-0932","authenticated-orcid":false,"given":"Chuong Dinh","family":"Nguyen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sang The","family":"Phan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Phong Tien","family":"Quach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thu Dang Anh","family":"Phan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khue Minh","family":"Nguyen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thong Duy","family":"Vo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hoang Huu","family":"Bui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2025,4,1]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1155\/2018\/2313675"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/S1089-3261(03)00133-8"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/s0140-6736(59)92128-2"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1136\/pgmj.51.598.550"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpg.2010.07.010"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.3109\/00365521.2011.650191"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-4-1"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2009.11.012"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/S0076-6879(05)00031-5"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007\/s12328-008-0027-y"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.5005\/jp-journals-10018-1145"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1093\/ckj\/sfw085"}],"container-title":["Case Reports in Gastroenterology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/crg\/article-pdf\/19\/1\/232\/4358930\/000544786.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/crg\/article-pdf\/19\/1\/232\/4358930\/000544786.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:17:13Z","timestamp":1745421433000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000544786"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,1]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,1,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000544786","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.28451051","asserted-by":"subject"}]},"ISSN":["1662-0631"],"issn-type":[{"type":"electronic","value":"1662-0631"}],"subject":[],"published":{"date-parts":[[2025,4,1]]}}}