进行性家族性肝内胆汁淤积症的最新研究进展

摘要/Abstract

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。

田辉. 进行性家族性肝内胆汁淤积症的最新研究进展[J]. 实用肝脏病杂志, 2009, 12(6): 477-480.

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