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",

month = may,

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

language = "English (US)",

volume = "150",

pages = "556--559",

journal = "Journal of Pediatrics",

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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

Y1 - 2007/5

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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ER -

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

Abstract

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