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.
