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进行性家族性肝内胆汁淤积症的最新研究进展 被引量：8

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摘要 进行性家族性肝内胆汁淤积症(PFIC)是一组异质性的常染色体隐性遗传病。依特异性肝细胞转运基因突变的不同,PFlC分为3型。PFIC-l型是ATP8B1基因突变所致,PFIC-2型是ABCB11基因突变所致,PFIC-3型是ABCB4基因突变所致。胆汁淤积是PFIC的主要临床征象。PFIC-1和PFIC-2血清γ-谷氨酰转肽酶(γ-GT)活性正常,而PFIC-3患者血清γ-GT活性升高。熊去氧胆酸是所有类型PFIC患儿的初始治疗选择,外科胆汁分流术能减轻部分PFIC-1或PFIC-2患者瘙痒,延缓病情进展,但对大多数患者肝移植乃惟一有效治疗措施。
作者 田辉
机构地区 沈阳医学院第三临床学院感染病科
出处 《实用肝脏病杂志》 CAS 2009年第6期477-480,共4页 Journal of Practical Hepatology
关键词 家族性 肝内胆汁淤积症 转运蛋白
分类号 R575 [医药卫生—消化系统]
  • 相关文献

参考文献28

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二级参考文献18

  • 1陈朱波,姚定康.进行性家族性肝内胆汁淤积[J].国际消化病杂志,2006,26(4):279-281. 被引量：5
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  • 10王中林,朱启镕,王建设,等.BSEP基因突变在低γ-GGT的进行性肝内胆汁淤积中的意义[J].第十四次全国儿科学术会议论文汇编,2007:64.

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实用肝脏病杂志
2009年 第6期

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