Crigler-Najjar综合征合并Gilbert综合征1例报道并文献复习
|
摘要
<正>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,非结合胆红素代谢障碍是二者共
引文
[1]姚光弼.临床肝脏病学[M].2版.上海:科学技术出版社,2011:502-511.
[2]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.
[3]Ranjan P,Kohl 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.
[4]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 B X,Hu G R,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]Nair K M,Loshe P,Nampoothiri S.Crigler-Najjar syndrome typeⅡ:novel UGT1A1mutation[J].Indian J Hum Genet,2012,18(2):233-234.
[7]Bulmer A C,Verkade H J,Wagner K H.Bilinubin and beyond:a review of lipid status in Gilbert,syndrome and its relevance to cardiovascular disease protection[J].Progress Lipid Res,2013,52(2):193-205.
[8]赵川,陈虹,李莉.Gilbert综合征合并Ⅱ型Crigler-Najjar综合征1例[J].疑难病杂志,2013,13(6):643.
[9]陈光榆,吴建新,黄健,等.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.
[10]Holstein A,Plaschke A,Lohse P,et al.Successful photo-and phenobarbital therapy during pregnancy in a woman with Crigler-Najjar syndrome typeⅡ[J].Scand J Gastroenterol,2005,40(9):1124-1126.
[11]Sakakibara Y,Katoh M,Kondo Y,et al.Effects of Phenobarbital on Expression of UDP-Glucuronosyltransferase 1a6and 1a7in Rat Brain[J].Drug Metab Dispos,2016,44(3):370-377.
[12]Kraemer D,Klinker H.Crigler-Najjar syndrome typeⅡin a caucasian patient resulting from two mutations in the bilirubin uridine5'-diphosphate-glucuronosyltransferase(UGT1A1)gene[J].J Hepatol,2002,36(5):706-707.
[13]Liu W L,Li F,He Z X,et al.Analysis of bilirubin UDPglucuronosyltransferase gene mutations in an unusual Crigler-Najjar syndrome patient[J].Mol Med Report,2012,6(3):667-669.
[2]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.
[3]Ranjan P,Kohl 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.
[4]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 B X,Hu G R,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]Nair K M,Loshe P,Nampoothiri S.Crigler-Najjar syndrome typeⅡ:novel UGT1A1mutation[J].Indian J Hum Genet,2012,18(2):233-234.
[7]Bulmer A C,Verkade H J,Wagner K H.Bilinubin and beyond:a review of lipid status in Gilbert,syndrome and its relevance to cardiovascular disease protection[J].Progress Lipid Res,2013,52(2):193-205.
[8]赵川,陈虹,李莉.Gilbert综合征合并Ⅱ型Crigler-Najjar综合征1例[J].疑难病杂志,2013,13(6):643.
[9]陈光榆,吴建新,黄健,等.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.
[10]Holstein A,Plaschke A,Lohse P,et al.Successful photo-and phenobarbital therapy during pregnancy in a woman with Crigler-Najjar syndrome typeⅡ[J].Scand J Gastroenterol,2005,40(9):1124-1126.
[11]Sakakibara Y,Katoh M,Kondo Y,et al.Effects of Phenobarbital on Expression of UDP-Glucuronosyltransferase 1a6and 1a7in Rat Brain[J].Drug Metab Dispos,2016,44(3):370-377.
[12]Kraemer D,Klinker H.Crigler-Najjar syndrome typeⅡin a caucasian patient resulting from two mutations in the bilirubin uridine5'-diphosphate-glucuronosyltransferase(UGT1A1)gene[J].J Hepatol,2002,36(5):706-707.
[13]Liu W L,Li F,He Z X,et al.Analysis of bilirubin UDPglucuronosyltransferase gene mutations in an unusual Crigler-Najjar syndrome patient[J].Mol Med Report,2012,6(3):667-669.