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

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)556-559
Number of pages4
JournalJournal of Pediatrics
Volume150
Issue number5
DOIs
StatePublished - May 2007

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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