Late-onset Cholestasis with Paucity of Portal Area Secondary to HNF1 Deficiency in Adulthood: A Case Report

Hepatocyte nuclear factor 10 (HNF10) 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 documented in neonates. Here, we report a case of cholestasis in an adult patient caused by a de novo HNF1/3 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 HNF1/3 defect could induce late -onset cholestasis with paucity of the portal area in adulthood.