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Publication Information
Affiliation
Department of Anesthesia and Perioperative Care, University of California, San Francisco, San Francisco, CA, USA.
Authors
Antoniou A, Bacchetti P, Blanchard S, Bourke B, Bull LN, Byrne JA, Czubkowski P, Emerick K, Fischler B, Freimer NB, Houwen R, Hupertz V, Jacquemin E, Jankowska I, Klomp L, Knisely AS, Kolho KL, Lacaille F, Lobritto S, McClean P, McQuaid S, Mieli-Vergani G, Nemeth A, Nielsen IM, Pawlikowska L, Pawlowska J, Rosenthal P, Shneider B, Sokal E, Strautnieks S, Thompson RJ, van Eerde AM, Wali S, Wanty C, Whitington PF
Studies
Citation
Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Emerick K, Antoniou A, Wanty C, Fischler B, Jacquemin E, Wali S, Blanchard S, Nielsen IM, Bourke B, McQuaid S, Lacaille F, Byrne JA, van Eerde AM, Kolho KL, Klomp L, Houwen R, Bacchetti P, Lobritto S, Hupertz V, McClean P, Mieli-Vergani G, Shneider B, Nemeth A, Sokal E, Freimer NB, Knisely AS, Rosenthal P, Whitington PF, Pawlowska J, Thompson RJ, Bull LN. Differences in presentation and progression between severe FIC1 and BSEP deficiencies. J Hepatol 2010 Jul;53(1):170-8. Epub 2010 Apr 13.Abstract
Progressive familial intrahepatic cholestasis (PFIC) with normal serum levels of gamma-glutamyltranspeptidase can result from mutations in ATP8B1 (encoding familial intrahepatic cholestasis 1 [FIC1]) or ABCB11 (encoding bile salt export pump [BSEP]). We evaluated clinical and laboratory features of disease in patients diagnosed with PFIC, who carried mutations in ATP8B1 (FIC1 deficiency) or ABCB11 (BSEP deficiency). Our goal was to identify features that distinguish presentation and course of these two disorders, thus facilitating diagnosis and elucidating the differing consequences of ATP8B1 and ABCB11 mutations.