摘要
进行性家族性肝内胆汁淤积(PFIC)是一组常染色体隐性遗传肝细胞源性儿童胆汁淤积症。根据病因可以分为3型：1型源于ATP8B1基因的突变,2型源于ABCB11基因的突变,3型源于MDR3基因的突变。临床以有胆汁淤积以及严重的皮肤瘙痒为特征。治疗方法包括药物治疗、外科部分胆道外分流术和肝移植三种方法。
Progressive familial intrahepatic cholestasis（PFIC）is an autosomal recessive inherited children liver cholestasis characterized by severe jaundice and pruritus. It can be categorizated three types by their causes, and type 1 is caused by mutation of ATP8B1 gene, type 2 is caused by mutation of ABCBll gene, whereas type 3 is caused by mutation of MDR3 gene. Therapy to this desease includes medical treatment, partial external biliary diversion and liver transplantation.
出处
《国际消化病杂志》
CAS
2006年第4期279-281,共3页
International Journal of Digestive Diseases
关键词
进行性家族性肝内胆汁淤积
基因突变
肝移植
Progressive familial intrahepatic cholestasis（PFIC）
Gene mutation
Liver transplantation
