Ⅱ型Crigler-Najjar综合征1例报告

伍玉南; 彭建平; 黄裕红; 阳航; 孙克伟

doi:10.3969/j.issn.1001-5256.2016.04.038

Ⅱ型Crigler-Najjar综合征1例报告

DOI: 10.3969/j.issn.1001-5256.2016.04.038

湖南中医药大学第一附属医院肝病科

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中图分类号: R575
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出版历程
- 出版日期: 2016-04-20

Type II Crigler-Najjar syndrome: a report of one case

Department of Liver Diseases, The First Affiliated Hospital of Hunan University of Chinese Medicine

摘要

摘要:
<正>Crigler-Najjar综合征（CNS）是由Crigler和Najjar于1952年首次报道而得名,是由尿苷二磷酸葡萄糖醛酸基转移酶（uridine 5’-diphosphate glucuronosyltransferase,UGT）1A1基因突变使其酶活性完全或部分丧失而导致的遗传性胆红素代谢障碍性疾病,分为Ⅰ型和Ⅱ型,发病率为百万分之一[1-3]。为常染色体
- Crigler-Najjar综合征 /
- 病例报告
- Crigler-Najjar sydrome /
- case reports

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参考文献(10)

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[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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