PubMed ID:
20447715
Public Release Type:
Journal
Publication Year: 2010
Affiliation: Department of Anesthesia and Perioperative Care, University of California, San Francisco, San Francisco, CA, USA.
DOI:
https://doi.org/10.1016/j.jhep.2010.01.034
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:
A Prospective Database of Infants With Cholestasis
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.