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ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Issue 4
Apr.  2016
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Type II Crigler-Najjar syndrome: a report of one case

DOI: 10.3969/j.issn.1001-5256.2016.04.038
  • Published Date: 2016-04-20
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  • [1]LIJIMA S,OHZEKI T,MARUO Y.Hereditary sperocytosis coexisting with UDP-glucuronosyltransferase deficiency highly suggestive of Crigler-Najjar syndrome typeⅡ[J].Yousei Med J,2011,52(2):369-372.
    [2]RANJAN P,KOHLI S,SAXENA R,et al.Mutation analysis in Crigler-Najjar syndrome typeⅡ-case report and literature review[J].Clin Exp Hepatol,2011,1(3):204-206.
    [3]YAO GB.Clinical hepatology[M].2nd ed.Shanghai:Shanghai Scientific&Technical Publishers,2011:502-506.(in Chinese)姚光弼.临床肝脏病学[M].2版.上海:上海科学技术出版社,2011:502-506.
    [4]PAN LL,SHI YS,YIN HQ,et al.UGT1A1 gene mutation in typeⅡCrigler-Najjar syndrome:a case report and literature review[J].Chin J Neonatol,2013,28(3):180-183.(in Chinese)潘丽丽,石岩石,阴怀清,等.Crigler-Najjar综合征Ⅱ型UGT1A1基因突变一例报道暨文献复习[J].中国新生儿科杂志,2013,28(3):180-183.
    [5]ZHENG BX,HU GR,YU J,et al.Crigler-Najjar syndrome typeⅡin a Chinese boy resulting from three mutations in the bilirubin uridine 5'-diphosphate glucuronosyltransferase(UGT1A1)gene and a family genetic analysis[J].BMC Pediatr,2014,14(15):267.
    [6]KIMURA T,AKABA K,IKEGAMI T,et al.Intermittent jaundice in patients with acute leukaemia:a common mutation of the bilirubin uridine-diphosphate glucuronosyltransferase gene among Asians[J].Inherit Metab Dis,1999,22(6):747-753.
    [7]BUIMER AC,VERKADE HJ,WAGNER KH.Diiirubin and beyond:a review of lipid status Gilbert syndrome and its relevance to cardiovascular disease protection[J].Progress Lipid Res,2013,52(2):193-205.
    [8]YAMAMOTO K,SEODA Y,KAMISAKO T,et al.Analysis of bilirabin uridine 5'-diphosphate(UDP)glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome typeⅡ[J].Hum Genet,1998,43(2):111-114.
    [9]NAIR KM,LOSHE P,NAMPOOTHIRI S.Crigler-Najjar syndrome typeⅡ:novel UGT1A1 mutation[J].Hum Genet,2012,18(2):233-234.
    [10]LIU WL,LI F,HE ZX,et al.Analysis of bilirubin UDP-glucuronosyltransferase gene mutation in an unusual Crigler-Najjar syndrome patient[J].Mol Med Report,2012,6(3):667-669.
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