Late-onset Cholestasis with Paucity of Portal Area Secondary

Hepatocyte nuclear factor 1β(HNF1β)is essential for biliary development,while its genetic defect triggers the dysplasia of interlobular bile ducts,leading to life-threatening hepatitis and cholestasis.To date,this disorder has mainly been docu-mented in neonates.Here,we report a case of cholestasis in an adult patient caused by a de novo HNF1β mutation.A liver biopsy revealed remarkable shrinkage of the portal area accompanied by a decrease or absence of interlobular bile ducts,veins,and arteries in the portal area.Our case showed that an HNF1β defect could induce late-onset cholestasis with paucity of the portal area in adulthood.