Progressive familial intrahepatic cholestasis
2009
Progressive Familial Intrahepatic Cholestasis Overview
publication
Evidence: moderate
Author Information
Author(s): Davit-Spraul Anne, Gonzales Emmanuel, Baussan Christiane, Jacquemin Emmanuel
Primary Institution: Bicêtre Hospital, University of Paris-sud XI, Assistance Publique-Hôpitaux de Paris, Paris, France
Conclusion
Progressive familial intrahepatic cholestasis (PFIC) is a rare group of genetic liver disorders that disrupt bile formation and can lead to severe liver disease in children.
Supporting Evidence
- PFIC represents 10 to 15% of causes of cholestasis in children.
- The estimated incidence of PFIC is between 1/50,000 and 1/100,000 births.
- PFIC1 and PFIC2 usually present in the first months of life, while PFIC3 may present later.
- Most PFIC patients ultimately require liver transplantation.
Takeaway
PFIC is a disease that affects children's livers, making it hard for them to process bile, which can make them very sick and sometimes need a liver transplant.
Methodology
The study reviews the genetic basis, clinical presentation, diagnosis, and management of PFIC.
Participant Demographics
PFIC affects children, with both sexes equally represented.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website