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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Differences in presentation and progression between severe FIC1 and BSEP deficiencies
Journal of Hepatology, Volume 53, No. 1, Year 2010
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Description
Background & Aims: 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. Methods: A retrospective multi-center study was conducted, using questionnaires and chart review. Available clinical and biochemical data from 145 PFIC patients with mutations in either ATP8B1 (61 "FIC1 patients") or ABCB11 (84 "BSEP patients") were evaluated. Results: At presentation, serum aminotransferase and bile salt levels were higher in BSEP patients; serum alkaline phosphatase values were higher, and serum albumin values were lower, in FIC1 patients. Elevated white blood cell counts, and giant or multinucleate cells at liver biopsy, were more common in BSEP patients. BSEP patients more often had gallstones and portal hypertension. Diarrhea, pancreatic disease, rickets, pneumonia, abnormal sweat tests, hearing impairment, and poor growth were more common in FIC1 patients. Among BSEP patients, the course of disease was less rapidly progressive in patients bearing the D482G mutation. Conclusions: Severe forms of FIC1 and BSEP deficiency differed. BSEP patients manifested more severe hepatobiliary disease, while FIC1 patients showed greater evidence of extrahepatic disease. © 2010 European Association for the Study of the Liver.
Authors & Co-Authors
Pawlikowska, Ludmila
Unknown Affiliation
Strautnieks, Sandra S.
Unknown Affiliation
Jankowska, Irena
Unknown Affiliation
Czubkowski, Piotr
Unknown Affiliation
Emerick, Karan
Unknown Affiliation
Antoniou, Anthony
Unknown Affiliation
Wanty, Catherine
Unknown Affiliation
Fischler, Björn D.
Unknown Affiliation
Jacquemin, Emmanuel
Unknown Affiliation
Wali, Sami
Unknown Affiliation
Blanchard, Samra
Unknown Affiliation
Nielsen, Inge Merete
Unknown Affiliation
Bourke, Billy
Unknown Affiliation
McQuaid, Shirley
Unknown Affiliation
Lacaille, Florence
Unknown Affiliation
Byrne, Jane A.
Unknown Affiliation
van Eerde, Albertien M.
Unknown Affiliation
Kolho, Kaíja Leena
Unknown Affiliation
Klomp, Leo
Unknown Affiliation
Houwen, Roderick
Unknown Affiliation
Bacchetti, Peter
Unknown Affiliation
Lobritto, Steven J.
Unknown Affiliation
Hupertz, Vera
Unknown Affiliation
McClean, Patricia
Unknown Affiliation
Mieli- Vergani, Giorgina
Unknown Affiliation
Shneider, Benjamin L.
Unknown Affiliation
Németh, Antal
Unknown Affiliation
Sokal, Etienne M.
Unknown Affiliation
Luben, Robert N.
Unknown Affiliation
Knisely, Alexander S.
Unknown Affiliation
Rosenthal, Philip Jon
Unknown Affiliation
Whitington, Peter F.
Unknown Affiliation
Pawłowska, Joanna
Unknown Affiliation
Thompson, Richard J.
Unknown Affiliation
Bull, Laura N.
Unknown Affiliation
Statistics
Citations: 185
Authors: 35
Affiliations: 25
Identifiers
Doi:
10.1016/j.jhep.2010.01.034
ISSN:
01688278
Research Areas
Cancer
Noncommunicable Diseases
Study Design
Cohort Study