Hepatitis E virus infection-triggered intrahepatic cholestasis:A case report  

作　　者：Stephan Drexler Frederic Haedge Susanne N Weber Marcin Krawczyk Matthias S Matter Carol I Geppert Achim Weber Bruno Stieger Christian Trautwein Andreas E Kremer 

机构地区：[1]Department of Medicine III,University Hospital Aachen,Aachen 52070,Germany [2]Department of Medicine III,University Hospital RWTH Aachen,Aachen 52070,Germany [3]Department of Medicine II,Saarland University Medical Center,Saarland University,Homburg 66424,Germany [4]Department of Gastroenterology,Hepatology and Transplant Medicine,Medical Faculty,University of Duisburg-Essen,Essen 45307,Germany [5]Institute of Medical Genetics and Pathology,University Hospital Basel,University of Basel,Basel 4031,Switzerland [6]Department of Pathology,Univ Erlangen Nurnberg,Erlangen D-91054,Germany [7]Comprehensive Cancer Center Erlangen-EMN(CCC),University Hospital Erlangen,FAU Erlangen-Nuremberg,Erlangen D-91052,Germany [8]Institute of Molecular Cancer Research,University Hospital Zurich and University Zurich,Zurich 8091,Switzerland [9]Department of Gastroenterology and Hepatology,University Hospital Zürich,University of Zürich,Zurich 8091,Switzerland [10]Department of Internal Medicine III,University Hospital RWTH Aachen,Aachen 52070,Germany [11]Department of Medicine 1,University Hospital Erlangen,Friedrich-Alexander-University Erlangen-Nürnberg,Erlangen 91054,Germany

出　　处：《World Journal of Hepatology》2025年第4期137-143,共7页世界肝病学杂志(英文)

摘　　要：BACKGROUND Genetic disorders affecting hepatobiliary transporters can be triggered by various factors,resulting in marked cholestasis.CASE SUMMARY We report two patients who experienced a severe episode of intrahepatic cholestasis triggered by an acute hepatitis E virus infection.Following an extensive clinical examination that ruled out common causes of cholestatic liver damage,we conducted next-generation sequencing to determine the genetic profiles of the patients.The analysis revealed several known and unknown variants in genes associated with hepatobiliary transporters and bile salt regulation,including ATP8B1,ABCB11,ABCB4,MYO5B,and FXR.For a comprehensive understanding of the pathophysiology,we performed ClinVar analysis and utilized PolyPhen for bioinformatic prediction of functional impact.Both patients exhibited rapid symptom improvement and a decrease in hyperbilirubinemia when treated with either rifampicin or bezafibrate.CONCLUSION Our findings introduce hepatitis E viral infection as a novel trigger for intrahepatic cholestasis,and we categorize the significance of the various genetic variants based on the current state of research.

关 键 词：Intrahepatic cholestasis Hepatitis E Next generation sequencing ATP8B1 Case report 

分 类 号：R575[医药卫生—消化系统]