Heritable Chronic Cholestatic Liver Diseases:A Review  

作　　者：Jasmine Tidwell George Y.Wu 

机构地区：[1]Department of Medicine,University of Connecticut Health Center,Farmington,CT,USA [2]Division of Gastroenterology-Hepatology,University of Connecticut Health Center,Farmington,CT,USA

出　　处：《Journal of Clinical and Translational Hepatology》2024年第8期726-738,共13页临床与转化肝病杂志（英文版）

摘　　要：Chronic cholestasis due to heritable causes is usually diagnosedin childhood.However,many cases can present andsurvive into adulthood.The time course varies considerablydepending on the underlying etiology.Laboratory data usuallyreveal elevated conjugated hyperbilirubinemia,alkalinephosphatase,and gamma-glutamyl transpeptidase.Patientsmay be asymptomatic;however,when present,the typicalsymptoms are pruritus,jaundice,fatigue,and alcoholicstools.The diagnostic methods and management requireddepend on the underlying etiology.The development of genome-wide associated studies has allowed the identificationof specific genetic mutations related to the pathophysiologyof cholestatic liver diseases.The aim of this review was tohighlight the genetics,clinical pathophysiology,presentation,diagnosis,and treatment of heritable etiologies of chroniccholestatic liver disease.

关 键 词：Chronic cholestasis Cholestatic liver disease Congenital hepatic fibrosis Caroli disease Caroli syndrome Alagille syndrome Biliary atresia 

分 类 号：R575[医药卫生—消化系统]