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

被引：88

作者：

Scheimann, A. O.

Strautnieks, S. S.

Knisely, A. S.

Byrne, J. A.

Thompson, R. J.

Finegold, M. J.

机构：

[1] Johns Hopkins Sch Med, Div Pediat Gastroenterol & Nutr, Dept Pediat, Baltimore, MD 21287 USA

[2] Kings Coll London, Sch Med, Div Gene & Cell Based Therapy, Dept Liver Studies & Transplantat, London WC2R 2LS, England

[3] Kings Coll Hosp London, Inst Liver Studies, London SE5 8RX, England

[4] Baylor Coll Med, Dept Pathol, Houston, TX 77030 USA

来源：

JOURNAL OF PEDIATRICS | 2007年 / 150卷 / 05期

关键词：

D O I：

10.1016/j.jpeds.2007.02.030

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：556 / 559

页数：4

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