Mutations in Bile Salt Export Pump (ABCB11) in Two Children with Progressive Familial Intrahepatic Cholestasis and Cholangiocarcinoma - 12/08/11
Doi : 10.1016/j.jpeds.2007.02.030
A.O. Scheimann, MD, MBA 
⁎ 
, S.S. Strautnieks, PhD †, A.S. Knisely, MD ‡, J.A. Byrne, PhD †, R.J. Thompson, MD, PhD †, M.J. Finegold, MD §
Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD
⁎ , S.S. Strautnieks, PhD †, A.S. Knisely, MD ‡, J.A. Byrne, PhD †, R.J. Thompson, MD, PhD †, M.J. Finegold, MD § Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD † Department of Liver Studies and Transplantation, Division of Gene and Cell Based Therapy, King’s College London School of Medicine, London, UK
‡ Institute of Liver Studies, King’s College Hospital, London, UK
§ Department of Pathology, Baylor College of Medicine, Houston, TX.
Reprint requests: Ann O. Scheimann, MD, MBA, Department of Pediatrics, Division of Pediatric Gastroenterology and Nutrition, Johns Hopkins School of Medicine, 600 North Wolfe St/Brady 320, Baltimore, MD 21287.Résumé |
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.
Le texte complet de cet article est disponible en PDF.Abbreviations : BSEP, FAB-MS, MRP2, SγGT
Plan
| 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.). |
© 2007
Mosby, Inc. Tous droits réservés.
Vol 150 - N° 5
P. 556-559 - mai 2007 Retour au numéro
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