{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T13:51:38Z","timestamp":1771509098606,"version":"3.50.1"},"reference-count":61,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,5,9]],"date-time":"2024-05-09T00:00:00Z","timestamp":1715212800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Crigler-Najjar syndrome (CNS) is caused by mutations in uridine 5\u2032-diphosphate glucuronyltransferase (UGT1A1) resulting in enzyme deficiency and hyperbilirubinemia. Type II CNS patients could respond to phenobarbital treatment and survive. This study presents a rare case of type II CNS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case summary<\/jats:title><jats:p>The proband was a 29-year-old male patient admitted with severe jaundice. A hepatic biopsy showed bullous steatosis of the peri-central veins of the hepatic lobule, sediment of bile pigment, and mild periportal inflammation with normal liver plate structure. The type II CNS was diagnosed by routine genomic sequencing which found that the proband with the Gry71Arg\/Tyr486Asp compound heterozygous mutations in the UGT1A1 gene. After treatment with phenobarbital (180\u2009mg\/day), his bilirubin levels fluctuated between 100 and 200\u2009\u03bcmol\/L for 6\u2009months and without severe icterus.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Type II CNS could be diagnosed by routine gene sequencing and treated by phenobarbital.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fmed.2024.1354514","type":"journal-article","created":{"date-parts":[[2024,5,9]],"date-time":"2024-05-09T05:27:45Z","timestamp":1715232465000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Type II Crigler-Najjar syndrome: a case report and literature review"],"prefix":"10.3389","volume":"11","author":[{"given":"Tao","family":"He","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoling","family":"Geng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xue","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lixia","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2024,5,9]]},"reference":[{"key":"ref1","first-page":"169","article-title":"Congenital familial nonhemolytic jaundice with kernicterus","volume":"10","author":"Crigler","year":"1952","journal-title":"Pediatrics"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"555","DOI":"10.1016\/j.bpg.2010.07.007","article-title":"Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and rotor syndrome)","volume":"24","author":"Strassburg","year":"2010","journal-title":"Best Pract Res Clin Gastroenterol"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1002\/1098-1004(200010)16:4<297::AID-HUMU2>3.0.CO;2-Z","article-title":"Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype","volume":"16","author":"Kadakol","year":"2000","journal-title":"Hum Mutat"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1111\/j.1399-0004.2007.00873.x","article-title":"Combined UGT1A1 and UGT1A7 variant alleles are associated with increased risk of Gilbert's syndrome in Taiwanese adults","volume":"72","author":"Teng","year":"2007","journal-title":"Clin Genet"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1016\/S0973-6883(11)60239-9","article-title":"Mutation analysis in Crigler-Najjar syndrome type II-case report and literature review","volume":"1","author":"Ranjan","year":"2011","journal-title":"J Clin Exp Hepatol"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1016\/s0925-4439(98)00013-1","article-title":"Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II","volume":"1406","author":"Yamamoto","year":"1998","journal-title":"Biochim Biophys Acta"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"693","DOI":"10.1007\/BF00206965","article-title":"Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases","volume":"94","author":"Labrune","year":"1994","journal-title":"Hum Genet"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1097\/01.mpg.0000184922.09389.0a","article-title":"Crigler-Najjar syndrome type II caused by a homozygous triple mutation [T-3279G, A(TA)7TAA, and H39D] of UGT1A1","volume":"42","author":"Maruo","year":"2006","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"950","DOI":"10.1016\/S0929-6646(09)60182-0","article-title":"Crigler-Najjar syndrome type 2. 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