AUTHOR=Xie Shuying , Wei Shizhang , Ma Xiao , Wang Ruilin , He Tingting , Zhang Zhao , Yang Ju , Wang Jiawei , Chang Lei , Jing Manyi , Li Haotian , Zhou Xuelin , Zhao Yanling 

TITLE=Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis

JOURNAL=Frontiers in Pharmacology

VOLUME=14

YEAR=2023

URL=https://www.frontiersin.org/journals/pharmacology/articles/10.3389/fphar.2023.1173542

DOI=10.3389/fphar.2023.1173542

ISSN=1663-9812

ABSTRACT=<p>Hereditary cholestatic liver disease caused by a class of autosomal gene mutations results in jaundice, which involves the abnormality of the synthesis, secretion, and other disorders of bile acids metabolism. Due to the existence of a variety of gene mutations, the clinical manifestations of children are also diverse. There is no unified standard for diagnosis and single detection method, which seriously hinders the development of clinical treatment. Therefore, the mutated genes of hereditary intrahepatic cholestasis were systematically described in this review.</p>