Severe familial cholestasis in North American Indian children: A clinical model of microfilament dysfunction?

摘要: Abstract Studies of 14 North American Indian children with a familial type severe neonatal cholestasis are described. Jaundice occurred during the period in 9 children, but disappeared before end 1st yr. Progressive liver damage was documented by persistence high levels alkaline phosphatase, moderate elevation transaminases, and pruritus. Serum bile acids were constantly elevated (3.0–119.5 μg/ml). Early portal hypertension variceal bleeding necessitated portal-systemic shunts 7 children. By light microscopy, early stage characterized hepatitis giant-cell transformation biliary stasis. Later on, fibrosis became evident followed cirrhosis. electron microscopy canaliculi appeared slightly dilated preservation or only partial loss microvilli. They surrounded prominent pericanalicular filamentous web. Immunofluorescence studies indicated presence actin-containing microfilaments. This group might represent human model microfilament dysfunction-induced cholestasis.