Differences in presentation and progression between severe FIC1 and BSEP deficiencies.

TitleDifferences in presentation and progression between severe FIC1 and BSEP deficiencies.
Publication TypeJournal Article
Year of Publication2010
AuthorsPawlikowska, L, Strautnieks S, Jankowska I, Czubkowski P, Emerick K, Antoniou A, Wanty C, Fischler B, Jacquemin E, Wali S, Blanchard S, Nielsen I-M, Bourke B, McQuaid S, Lacaille F, Byrne JA, van Eerde AM, Kolho K-L, 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
JournalJournal of hepatology
Date Published2010 Jul
KeywordsAdenosine Triphosphatases, Adolescent, Adult, Age of Onset, ATP-Binding Cassette Transporters, Bile Acids and Salts, Child, Child, Preschool, Cholestasis, Intrahepatic, Diagnosis, Differential, Disease Progression, Female, gamma-Glutamyltransferase, Humans, Infant, Infant, Newborn, Kaplan-Meier Estimate, Male, Mutation, Phenotype, Pregnancy, Retrospective Studies, Young Adult

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.

Alternate JournalJ. Hepatol.