Mutations in bile salt export pump (ABCB11) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinoma.
case_report · Level V
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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.
Medical subject headings
- ATP-Binding Cassette Transporters
- Bile Duct Neoplasms
- Bile Ducts, Intrahepatic
- Cholangiocarcinoma
- Cholestasis, Intrahepatic
- Mutation