Progressive familial intrahepatic cholestasis: a personal perspective.

Abstract

Progressive familial intrahepatic cholestasis (PFIC), originally described as "Byler disease" in an Amish kindred, has been distinguished from other forms of cholestatic liver disease in childhood by clinical findings, clinical-laboratory observations, and morphologic studies in biopsy, hepatectomy, and autopsy specimens. Correlation with genetic analyses has permitted both more precise definition of PFIC and distinctions within PFIC. Two types of PFIC now are recognized: PFIC-1, resulting from mutations in a gene called FIC1 (familial intrahepatic cholestasis, type 1), and PFIC-2, resulting from mutations in a gene called BSEP (bile salt export pump). Other forms of PFIC may yet be identified. The roles of FIC1 and BSEP in the secretion of bile acids into bile and in the post-secretory modification of bile are under study.

• Authors: A S Knisely
• Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society (Pediatr Dev Pathol) 2000 Mar-Apr Vol. 3 Issue 2 Pg. 113-25 ISSN: 1093-5266 [Print] United States
• PMID: 10679031 (Publication Type: Journal Article, Review)

Chemical References

• ABCB11 protein, human
• ATP Binding Cassette Transporter, Subfamily B, Member 11
• ATP-Binding Cassette Transporters
• gamma-Glutamyltransferase
• Adenosine Triphosphatases
• ATP8B1 protein, human

Topics

• ATP Binding Cassette Transporter, Subfamily B, Member 11
• ATP-Binding Cassette Transporters (genetics)
• Adenosine Triphosphatases (genetics)
• Cholestasis, Intrahepatic (diagnosis, enzymology, genetics)
• Humans
• Infant
• Infant, Newborn
• gamma-Glutamyltransferase (genetics, metabolism)