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

May 15, 2007

A.O. Scheimann MD, MBA, S.S. Strautnieks PhD, A.S. Knisely MD, J.A. Byrne PhD, R.J. Thompson MD, PhD and M.J. Finegold MD

The Journal of Pediatrics Volume 150, Issue 5, May 2007, Pages 556-559 

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.