两名患有进行性家族性肝内胆汁淤积症和胆管癌的儿童中胆汁盐输出泵（ABCB11）的突变

Mutations in bile salt export pump (ABCB11) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinoma.

作者信息

Scheimann A O, Strautnieks S S, Knisely A S, Byrne J A, Thompson R J, Finegold M J

机构信息

Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA.

出版信息

J Pediatr. 2007 May;150(5):556-9. doi: 10.1016/j.jpeds.2007.02.030.

DOI:10.1016/j.jpeds.2007.02.030

PMID:17452236

Abstract

Fatal peripheral cholangiocarcinoma developed in 2 girls with progressive familial intrahepatic cholestasis, ABCB11 mutations, and absent bile salt export pump (BSEP) expression. BSEP deficiency may cause cholangiocarcinoma through bile-composition shifts or bile-acid damage within cells capable of hepatocytic/cholangiocytic differentiation. This observation suggests the need for hepatobiliary-malignancy surveillance and early consideration for liver transplantation.

摘要

2名患有进行性家族性肝内胆汁淤积症、ABCB11突变且无胆汁盐输出泵（BSEP）表达的女孩发生了致命性外周胆管癌。BSEP缺乏可能通过胆汁成分改变或在具有肝细胞/胆管细胞分化能力的细胞内胆汁酸损伤而导致胆管癌。这一观察结果表明需要进行肝胆恶性肿瘤监测并尽早考虑肝移植。