Clinical and biochemical findings in progressive familial intrahepatic cholestasis

Peter F. Whitington, Deborah K. Freese, Estella M. Alonso, Sarah J Schwarzenberg, Harvey L. Sharp

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211 Scopus citations

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 γ-glutamyl transpeptidase, averaging 15 IU/L before the administration of phe-nobarbital, 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.

Original languageEnglish (US)
Pages (from-to)134-141
Number of pages8
JournalJournal of pediatric gastroenterology and nutrition
Volume18
Issue number2
DOIs
StatePublished - Feb 1994

Keywords

  • Byler disease
  • Ductal paucity
  • Surgical therapy for cholestatic liver disease
  • γ-Glutamyl transpeptidase

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