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 d...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.展开更多
基金supported by National Natural Science Foun-dation of China(Nos.82222074,82074154,81774240)Siming Scholar from Shanghai Shuguang Hospital(No.SGXZ-201904)Shuguang Program of Shanghai Education Development Foundation and Shanghai Municipal Education Commission,Youth Tip-top Talent Program,Constant-emi-nent Program in Shanghai,Xinglin Youth Scholar Program from Shanghai University of Traditional Chinese Medicine.
文摘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.
