Late-onset Cholestasis with Paucity of Portal Area Secondary to HNF1β Deficiency in Adulthood: A Case Report

Xuemei Zhang; Kun Liu; Xiaona Lu; Wenlan Zheng; Jia Shi; Shihan Yu; Hai Feng; Zhuo Yu

doi:10.14218/JCTH.2023.00464

Late-onset Cholestasis with Paucity of Portal Area Secondary to HNF1β Deficiency in Adulthood: A Case Report

J Clin Transl Hepatol. 2024 Mar 28;12(3):327-331. doi: 10.14218/JCTH.2023.00464. Epub 2024 Feb 19.

Authors

Xuemei Zhang¹, Kun Liu², Xiaona Lu¹, Wenlan Zheng¹, Jia Shi¹, Shihan Yu¹, Hai Feng³, Zhuo Yu¹

Affiliations

¹ Department of Hepatopathy, Shuguang Hospital Affiliated to Shanghai University of Traditional Chinese Medicine, Shanghai, China.
² Department of Pathology, Shuguang Hospital Affiliated to Shanghai University of Traditional Chinese Medicine, Shanghai, China.
³ Institute of Infectious Disease, Shuguang Hospital Affiliated to Shanghai University of Traditional Chinese Medicine, Shanghai, China.

Abstract

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.

Keywords: Adult patient; Case report; Cholestasis; HNF1β; Paucity of the portal area; Renal cysts.

Publication types

Case Reports