Progressive familial intrahepatic cholestasis

Two brothers with an early onset of fluctuating jaundice, pruritus, malabsorption, and rickets are reported. Biochemical features included conjugated hyperbilirubinemia, elevated alkaline phosphatase, normal cholesterol, slightly elevated transaminase, elevated serum bile salts, and hypoglycemia. There was also evidence of rickets and deficiency of the fat soluble vitamins. Histological appearance of the liver showed bile stasis and paucity of the interlobular bile ducts. The familial incidence, clinical course, biochemical findings, and liver histology in our cases and in similar reported cases, are distinctive of an intermediate form of familial progressive intrahepatic cholestasis, milder than congenital intrahepatic biliary atresia, but more severe than benign recurrent intrahepatic cholestasis. A defect in the hepatic excretory mechanism is postulated for this group of intrahepatic cholestatic disorders which appear to be genetically determined with an autosomal recessive pattern of inheritance. Both brothers had symptomatic and chemical improvement with phenobarbital therapy.