进行性家族性肝内胆汁淤积症的最新研究进展

被引:6
作者
田辉
机构
[1] 沈阳医学院第三临床学院感染病科
关键词
家族性; 肝内胆汁淤积症; 转运蛋白;
D O I
暂无
中图分类号
R575 [肝及胆疾病];
学科分类号
100201 [内科学];
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。
引用
收藏
页码:477 / 480
页数:4
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