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Differences in presentation and progression between severe FIC1 and BSEP deficiencies
Ludmila Pawlikowska1, Sandra Strautnieks, Irena Jankowska
1Department of Anesthesia and Perioperative Care, University of California, San Francisco, San Francisco, CA, USA.
Journal of Hepatology
|May 8, 2010
Summary
Progressive familial intrahepatic cholestasis (PFIC) caused by ATP8B1 (FIC1) or ABCB11 (BSEP) mutations presents differently. BSEP deficiency leads to severe liver disease, while FIC1 deficiency causes more extrahepatic symptoms.
Area of Science:
- Hepatology
- Genetics
- Pediatric Gastroenterology
Background:
- Progressive familial intrahepatic cholestasis (PFIC) can arise from mutations in ATP8B1 (FIC1) or ABCB11 (BSEP).
- These genetic defects lead to distinct clinical presentations, even with normal gamma-glutamyltranspeptidase levels.
Purpose of the Study:
- To differentiate clinical and laboratory features of FIC1 and BSEP deficiencies.
- To identify distinguishing characteristics for improved diagnosis and understanding of ATP8B1 and ABCB11 mutation consequences.
Main Methods:
- A retrospective, multi-center study involving 145 PFIC patients.
- Evaluation of clinical and biochemical data from patients with ATP8B1 (FIC1) or ABCB11 (BSEP) mutations.
Main Results:
- BSEP patients had higher aminotransferase and bile salt levels, while FIC1 patients had higher alkaline phosphatase and lower albumin.
- Liver biopsies showed more giant cells in BSEP patients, who also had higher rates of gallstones and portal hypertension.
- FIC1 patients more frequently experienced diarrhea, pancreatic disease, rickets, pneumonia, and growth failure.
Conclusions:
- Severe FIC1 and BSEP deficiencies exhibit distinct clinical phenotypes.
- BSEP deficiency is associated with more severe hepatobiliary disease.
- FIC1 deficiency is characterized by greater evidence of extrahepatic manifestations.
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