title: Clinical and biochemical findings in progressive familial intrahepatic cholestasis.
abstract: The clinical findings in 33 patients with progressive familial intrahepatic cholestasis (PFIC) are presented. Symptoms developed almost invariably before 6 months of age with severe pruritus and moderate jaundice. Other clinical findings included wheezing and nosebleeds, fat-soluble vitamin deficiency states, and cholelithiasis. Lower values for gamma-glutamyl transpeptidase, averaging 15 IU/L before the administration of phenobarbital, and cholesterol, which averaged 156 mg/dl, are helpful in distinguishing PFIC from other pediatric cholestatic liver diseases. Autosomal recessive inheritance is probable. Twenty-six patients are alive at 12.9 +/- 6.7 years of age, all having had successful surgical treatment, either partial biliary diversion (n = 17) or orthotopic liver transplantation (n = 10). Seven patients died at a mean age of 3.9 +/- 2.4 years, as a result of liver failure in two, hepatocellular carcinoma in two, and complications of liver transplantation in three.
authors.affiliation: Department of Pediatrics, University of Chicago Pritzker School of Medicine, Illinois.
authors.forename: P F
authors.initials: PF
authors.lastname: Whitington
authors.forename: D K
authors.initials: DK
authors.lastname: Freese
authors.forename: E M
authors.initials: EM
authors.lastname: Alonso
authors.forename: S J
authors.initials: SJ
authors.lastname: Schwarzenberg
authors.forename: H L
authors.initials: HL
authors.lastname: Sharp
mesh_terms: D000293:Adolescent; D000328:Adult; D006528:Carcinoma, Hepatocellular / Q000150:complications; D002648:Child; D002675:Child, Preschool; D002780:Cholestasis, Intrahepatic / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology* / Q000628:therapy; D006403:Hematologic Tests; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008113:Liver Neoplasms / Q000150:complications; D016031:Liver Transplantation; D005723:gamma-Glutamyltransferase / Q000097:blood
chemical_list: D005723:gamma-Glutamyltransferase