{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T13:39:28Z","timestamp":1777901968934,"version":"3.51.4"},"reference-count":20,"publisher":"SAGE Publications","issue":"2","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:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"Science and Technology Commission of Jiading District","award":["JDKW-2024-0039"],"award-info":[{"award-number":["JDKW-2024-0039"]}]},{"name":"Shanghai University of Medicine and Health Sciences Clinical Research Centre for Metabolic Vascular Diseases Project","award":["20MC2020004"],"award-info":[{"award-number":["20MC2020004"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Science Progress"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:p>\n                    Benign recurrent intrahepatic cholestasis (BRIC) is a rare genetic liver disorder characterized by recurrent episodes of jaundice and severe pruritus without significant liver damage. Here, we present the case of a man in his early 20s, standing 143\u2005cm tall, who has experienced recurrent jaundice and pruritus over an 18-year period. Laboratory investigations and liver biopsy examination indicated typical intrahepatic cholestasis with normal gamma-glutamyl transpeptidase levels, excluding viral, metabolic, and autoimmune causes. Further genetic analysis confirmed the diagnosis of BRIC with two compound heterozygous mutations in\n                    <jats:italic>ATP8B1<\/jats:italic>\n                    gene on chromosome 18: NM_001374385.1: c.2081T\u2009&gt;\u2009C p. (Ile694Thr) (rs541474497) in exon 18 and NC_000018.10 (NM_001374385.1): c.1631-2A\u2009&gt;\u2009G in intron 15. To our knowledge, the latter has not been reported. Family lineage analysis and Sanger sequencing showed that these mutations were\n                    <jats:italic>de novo<\/jats:italic>\n                    rather than hereditary. Treatment with ursodeoxycholic acid and cholestyramine resulted in complete resolution of jaundice and pruritus, with normalization of serum bilirubin level after six months of therapy.\n                  <\/jats:p>","DOI":"10.1177\/00368504251335415","type":"journal-article","created":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T10:59:54Z","timestamp":1745319594000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["A sporadic case of benign recurrent intrahepatic cholestasis in a growth-impaired young male"],"prefix":"10.1177","volume":"108","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6345-5350","authenticated-orcid":false,"given":"Jiasheng","family":"Shao","sequence":"first","affiliation":[{"name":"Department of Immunology and Rheumatology, Jiading District Central Hospital Affiliated Shanghai University of Medicine &amp; Health Sciences, Shanghai, China"},{"name":"Ren Ji Hospital, Jiading Branch, Shanghai Jiao Tong University School of Medicine, Shanghai, China"},{"name":"Tulane National Primate Research Center, Tulane University School of Medicine, Covington, LA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rong","family":"Fan","sequence":"additional","affiliation":[{"name":"Genomics, Center for Molecular and Cellular Bioengineering, Biotechnology Center, Technische Universit\u00e4t, Dresden, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minhua","family":"Shao","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences and Institutes for Biomedical Sciences, Fudan University, Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Dai","sequence":"additional","affiliation":[{"name":"Department of Immunology and Rheumatology, Jiading District Central Hospital Affiliated Shanghai University of Medicine &amp; Health Sciences, Shanghai, China"},{"name":"Ren Ji Hospital, Jiading Branch, Shanghai Jiao Tong University School of Medicine, Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gang","family":"Huang","sequence":"additional","affiliation":[{"name":"Shanghai Key Laboratory of Molecular Imaging, Shanghai University of Medicine and Health Sciences, Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiang","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Immunology and Rheumatology, Jiading District Central Hospital Affiliated Shanghai University of Medicine &amp; Health Sciences, Shanghai, China"},{"name":"Ren Ji Hospital, Jiading Branch, Shanghai Jiao Tong University School of Medicine, Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liou","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Molecular Cell Lab for Kidney Disease, Shanghai Peritoneal Dialysis Research Center, Renji Hospital, Uremia Diagnosis and Treatment Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,4,22]]},"reference":[{"key":"e_1_3_6_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(59)92128-2"},{"key":"e_1_3_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1089-3261(03)00133-8"},{"key":"e_1_3_6_4_2","doi-asserted-by":"publisher","DOI":"10.4254\/wjh.v12.i2.64"},{"key":"e_1_3_6_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cld.2022.03.003"},{"key":"e_1_3_6_6_2","doi-asserted-by":"publisher","DOI":"10.3109\/00365521.2011.650191"},{"key":"e_1_3_6_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/hep.1840090404"},{"key":"e_1_3_6_8_2","doi-asserted-by":"publisher","DOI":"10.3390\/jcm12185979"},{"key":"e_1_3_6_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/head.12246"},{"key":"e_1_3_6_10_2","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2004.04.065"},{"key":"e_1_3_6_11_2","first-page":"133","article-title":"An adult case of benign recurrent intrahepatic cholestasis due to MYO5B deficiency","volume":"49","author":"Mishima Y","year":"2024","unstructured":"Mishima Y, Tsuruya K, Tazawa Y, et al. An adult case of benign recurrent intrahepatic cholestasis due to MYO5B deficiency. Tokai J Exp Clin Med 2024; 49: 133\u2013136. PMID: 39182182.","journal-title":"Tokai J Exp Clin Med"},{"key":"e_1_3_6_12_2","doi-asserted-by":"publisher","DOI":"10.3389\/fmed.2021.705489"},{"key":"e_1_3_6_13_2","doi-asserted-by":"publisher","DOI":"10.5223\/pghn.2012.15.2.122"},{"key":"e_1_3_6_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/hep.20285"},{"key":"e_1_3_6_15_2","first-page":"477","article-title":"Triggers of benign recurrent intrahepatic cholestasis and its pathophysiology: a review of literature","volume":"84","author":"Halawi A","year":"2021","unstructured":"Halawi A, Ibrahim N, Bitar R. Triggers of benign recurrent intrahepatic cholestasis and its pathophysiology: a review of literature. Acta Gastroenterol Belg 2021; 84: 477\u2013486.","journal-title":"Acta Gastroenterol Belg"},{"key":"e_1_3_6_16_2","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000003153"},{"key":"e_1_3_6_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/j.1536-4801.2004.tb00874.x"},{"key":"e_1_3_6_18_2","volume-title":"StatPearls","author":"Ucciferro P","year":"2023","unstructured":"Ucciferro P, Anastasopoulou C. Pseudohypoparathyroidism. In: StatPearls. 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