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进行性家族性肝内胆汁淤积症的研究现状
Current research on progressive familial intrahepatic cholestasis
文章发布日期:2015年09月06日  来源:  作者:邓宝成,刘沛  点击次数:2862次  下载次数:496次

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【摘要】:进行性家族性肝内胆汁淤积症(PFIC)是一组罕见的异质性常染色体隐性遗传性疾病,发病率约为1/50 000~1/100 000。依据编码肝细胞膜转运蛋白基因的不同,可将PFIC分为三型。PFIC-1、PFIC-2和PFIC-3分别是ATP8B1、ABCB11和ABCB4基因突变所致。PFIC-1和PFIC-2血清GGT活性正常,而PFIC-3血清GGT活性升高。PFIC以严重肝内胆汁淤积为主要特征,在婴儿或者儿童期发病,进展迅速,通常在儿童或者青春期进展为终末期肝病。诊断主要靠临床症状、生化学检测、肝脏影像学、肝脏病理学及基因检测等。熊去氧胆酸是所有类型PFIC患者的初始治疗药物,外科胆汁分流术能减轻部分PFIC-1或PFIC-2患者瘙痒症状,延缓病情进展,但对大多数患者肝移植是唯一有效的治疗措施。
【Abstract】:Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal-recessive disorders. The estimated incidence varies between 1/50,000 and 1/100,000 births. Three types of PFIC have been identified and related to mutations in hepatocellular transport system genes involved in bile formation. PFIC-1, PFIC-2, and PFIC-3 are due to mutations in ATP8B1, ABCB11, and ABCB4 genes involved in bile secretion, respectively. Serum gamma-glutamyl transpeptidase is normal in patients with PFIC-1 and PFIC-2, while it is raised in patients with PFIC3. The main clinical manifestation of PFIC is severe intrahepatic cholestasis. PFIC usually appears in infancy or childhood and rapidly progresses to end-stage liver disease before adulthood. Diagnosis of this disease is based on clinical manifestations, liver function tests, liver ultrasonography, liver histology, and genetic testing. Ursodeoxycholic acid therapy is the initial treatment in all PFIC patients to prevent liver damage. In some PFIC1 and PFIC2 patients, biliary diversion may also relieve pruritus and slow disease progression. However, most PFIC patients are ultimately candidates for liver transplantation.
【关键字】:胆汁淤积,肝内;膜转运蛋白类;突变;儿童
【Key words】:cholestasis, intrahepatic; membrane transport proteins; mutation; child
【引证本文】:邓宝成, 刘沛. 进行性家族性肝内胆汁淤积症的研究现状[J]. 临床肝胆病杂志, 2015, 31(10): 1599-1604.

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