Mutations in Bile Salt Export Pump (ABCB11) in... : Journal of Pediatrics (original) (raw)

Clinical and laboratory observation

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

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

Journal of Pediatrics

150

(

5

)

:p

556

-

559

,

May 2007

.

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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