%0 Case Reports
%T Late-onset Cholestasis with Paucity of Portal Area Secondary to HNF1β Deficiency in Adulthood: A Case Report.
%A Zhang X
%A Liu K
%A Lu X
%A Zheng W
%A Shi J
%A Yu S
%A Feng H
%A Yu Z
%J J Clin Transl Hepatol
%V 12
%N 3
%D 2024 Mar 28
%M 38426190
%F 5.065
%R 10.14218/JCTH.2023.00464
%X 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 documented 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.