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Pediatric and Developmental Pathology

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01.04.2004 | Original article

Progressive Familial Intrahepatic Cholestasis: An Update

verfasst von: A.S. Knisely

Erschienen in: Pediatric and Developmental Pathology | Ausgabe 4/2004

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Excerpt

Progressive familial intrahepatic cholestasis (PFIC), originally described as “Byler disease” in an Amish kindred, had 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. At the time of the publication of the original review article in Pediatric and Developmental Pathology (2000;3:113–125) correlation with genetic analyses permitted both more precise definition of PFIC and distinctions within PFIC. Two types of PFIC were 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). We predicted that other forms of PFIC would be identified and that the roles of FIC1 and BSEP in the secretion of bile acids into bile and in the post-secretory modification of bile were under study. …

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Titel: Progressive Familial Intrahepatic Cholestasis: An Update
verfasst von: A.S. Knisely
Publikationsdatum: 01.04.2004
Verlag: Springer-Verlag
Erschienen in: Pediatric and Developmental Pathology / Ausgabe 4/2004
Print ISSN: 1093-5266
Elektronische ISSN: 1615-5742
DOI: https://doi.org/10.1007/s10024-003-0625-0

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