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Crigler-Najjar综合征合并Gilbert综合征1例报道并文献复习 被引量:3

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摘要 Crigler-Najjar综合征(Crigler-Najjar syndrome,CNS)和Gilbert综合征(Gilbert syndrome,GS)均为常染色体隐性遗传病[1],尿苷二磷酸葡萄糖苷酸转移酶同工酶(UGT1A1)基因突变,葡萄糖醛酸转移酶(UGT)蛋白表达异常,致肝细胞中该酶含量减少或缺乏,
出处 《中国中西医结合消化杂志》 CAS 2017年第4期317-319,共3页 Chinese Journal of Integrated Traditional and Western Medicine on Digestion
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  • 1陈光榆,吴建新,黄健,韩泽广,李定国.Crigler-Najjar综合征Ⅱ型患者及其家系UGT1A1基因突变的分析[J].中国临床医学,2007,14(1):13-16. 被引量:5
  • 2Nong SH,Xie YM,Chan KW,et al.Severe hyperbilirubinaemia in a Chinese girl with type I Crigler-Najjar syndrome:First case ever reported in China's Mainland[J].J Paediatr Child Health,2005,41(5-6):300-302.
  • 3Kraemer D,Scheurlen M.Gilbert disease and type Ⅰ and Ⅱ Crigler-Najjar syndrome due to mutations in the same UGT1A1 gene locus[J].Med Klin (Munich),2002,97(9):528-532.
  • 4Jansen PLM,Bosma PJ,Roy Chowdhury J.Molecular biology of bilirubin metabolism[A].Boyer JL,Ockner RK,eds.Progress in liver diseases[M].Philadelphia:WB Saunders,1995:125-150.
  • 5姚光粥.临床肝脏病学[M].2版.上海:科学技术出版社,2011:502-505.
  • 6Yamamoto KK,Seoda YY, Kamisako TT, et al. Analysis of bilirubin uri- dine 5 '-diphosphate ( UDP ) -glucuronosyhransferase gene mutations in seven patients with Crigler-Najjar syndrome type II [ J ]. J Hum Genet, 1998,43: 111-114.
  • 7Bnlmer AC, Verkade HJ, Wagner KH. Bilirubiu and beyond:a review of lipid status in Gilbert ' s syndrome and its relevance to cardiovascular dis- ease protection [ J ]. Progress Lipid Res, 2013,52 ( 2 ) : 193-205.
  • 8WANG Jin FANG Ling-juan LI Long WANG Jian-she CHEN Chao.A new frame-shifting mutation of UGT1A1 gene causes type I Crigler-Najjar syndrome[J].Chinese Medical Journal,2011(23):4109-4111. 被引量:10
  • 9武桂萍,石银月,郝俊贵,颜学兵,王兴田,柳红.经基因型鉴定确诊为Gilbert综合征一例报道及文献复习[J].中华实验和临床感染病杂志(电子版),2012,6(5):82-83. 被引量:5
  • 10潘丽丽,石岩,阴怀清,栗红,王成礼,张晓佳,李迎敏.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. 被引量:12

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