期刊文献+

Clinical signs and genetic sequencing of benign recurrent intrahepatic cholestasis 被引量:1

Clinical signs and genetic sequencing of benign recurrent intrahepatic cholestasis
原文传递
导出
摘要 Benign recurrent intrahepatic cholestasis (BRIC) is a Prare autosomal recessive liver disease characterizedby intermittent attacks of cholestasis that was first reported by Summerskill and Walshe in 1959.1 A few reports on patients with BRIC in China have been described in recent years, however, it is still a challenge to give the patients a correct diagnosis. Therefore, we collected five cases in the Beijing Friendship Hospital and the China-Japan Friendship Hospital in the past two years to summarize their clinical features, and explore the mutation region of the ATP8B1 gene from Chinese patients with BRIC. Benign recurrent intrahepatic cholestasis (BRIC) is a Prare autosomal recessive liver disease characterizedby intermittent attacks of cholestasis that was first reported by Summerskill and Walshe in 1959.1 A few reports on patients with BRIC in China have been described in recent years, however, it is still a challenge to give the patients a correct diagnosis. Therefore, we collected five cases in the Beijing Friendship Hospital and the China-Japan Friendship Hospital in the past two years to summarize their clinical features, and explore the mutation region of the ATP8B1 gene from Chinese patients with BRIC.
出处 《Chinese Medical Journal》 SCIE CAS CSCD 2013年第24期4802-4803,共2页 中华医学杂志(英文版)
关键词 benign recurrent intrahepatic cholestasis HYPERTHYROIDISM ATP8B1 benign recurrent intrahepatic cholestasis hyperthyroidism ATP8B1
  • 相关文献

参考文献5

  • 1Summerskill WH, Walshe JM. Benign recurrent intrahepatic "'obstructive" jaundice. Lancet 1959; 2: 686-690.
  • 2Luketic VA, Shiffman ML. Benign recurrent intrahepatic cholestasis. Clin Liver Dis 2004; 8: 133-149.
  • 3Bull LN, van Eijk M J, Pawlikowska L, DeYoung JA, Juijn JA Liao M, et al. A gene encoding a P-type ATPase mutated in two fornls of hereditary cholestasis. Nat Genet 1998: 18:219- 224.
  • 4Verhulst PM, van der Velden LM, Oorschot V, van Faassen EE, Klumpemlan J, Houwen RH, et al. A flippase-independent function ofATP8B1, the protein affected in familial intrahepatic cholestasis type 1, is required ['or apical protein expression and microvillus formation in polarized epithelial cells, l-lepatology 2010; 51 : 2049-2060.
  • 5Wakui N, Fujita M, Oba N, Yamauchi Y, Takeda Y, Ueki N, et al. Endoscopic nasobiliary drainage improves jaundice attack symptoms in benign recurrent intrahepatic cholestasis: a case report. Exp Ther Med 2013; 5: 389-394.

同被引文献10

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部