Mutations in Bile Salt Export Pump (ABCB11) in Two Children with Progressive Familial Intrahepatic Cholestasis and Cholangiocarcinoma

Overview

Journal J Pediatr

Specialty Pediatrics

Date 2007 Apr 25

PMID 17452236

Citations 38

Authors

A O Scheimann

S S Strautnieks

A S Knisely

J A Byrne

R J Thompson

M J Finegold

Affiliations

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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.

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