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

doi:10.1016/j.jpeds.2007.02.030

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

School of Medicine

Research output: Contribution to journal › Article › peer-review

91 Scopus citations

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 language	English (US)
Pages (from-to)	556-559
Number of pages	4
Journal	Journal of Pediatrics
Volume	150
Issue number	5
DOIs	https://doi.org/10.1016/j.jpeds.2007.02.030
State	Published - May 2007

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/j.jpeds.2007.02.030

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

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.",

author = "Scheimann, {A. O.} and Strautnieks, {S. S.} and Knisely, {A. S.} and Byrne, {J. A.} and Thompson, {R. J.} and Finegold, {M. J.}",

note = "Funding Information: Supported by Guy{\textquoteright}s and St. Thomas{\textquoteright} Charity, London, UK, and the Children{\textquoteright}s Liver Disease Foundation, Birmingham, UK (S.S.S., J.A.B., R.J.T.). Copyright: Copyright 2008 Elsevier B.V., All rights reserved.",

year = "2007",

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doi = "10.1016/j.jpeds.2007.02.030",

language = "English (US)",

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AU - Scheimann, A. O.

AU - Strautnieks, S. S.

AU - Knisely, A. S.

AU - Byrne, J. A.

AU - Thompson, R. J.

AU - Finegold, M. J.

N1 - Funding Information: Supported by Guy’s and St. Thomas’ Charity, London, UK, and the Children’s Liver Disease Foundation, Birmingham, UK (S.S.S., J.A.B., R.J.T.). Copyright: Copyright 2008 Elsevier B.V., All rights reserved.

PY - 2007/5

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N2 - 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.

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

Abstract

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