Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis

Frontiers in Pharmacology

Pharmacology

Shizhang Wei¹  Xuelin Zhou²  Ruilin Wang³  Tingting He³  Haotian Li⁴  Manyi Jing⁴  Xiao Ma⁵  Jiawei Wang⁵  Ju Yang⁵  Zhao Zhang⁵  Shuying Xie⁶  Lei Chang⁶  Yanling Zhao⁷ 

[1] Department of Anatomy, Histology and Embryology, School of Basic Medical Sciences, Health Science Center, Peking University, Beijing, China;Department of Pharmacology, School of Basic Medical Sciences, Capital Medical University, Beijing, China;Department of Pharmacy, 5th Medical Center of Chinese PLA General Hospital, Beijing, China;Department of Pharmacy, Chinese PLA General Hospital, Beijing, China;Pharmacy College, Chengdu University of Traditional Chinese Medicine, Chengdu, China;School of Traditional Chinese Medicine, Southern Medical University, Guangzhou, China;School of Traditional Chinese Medicine, Southern Medical University, Guangzhou, China;Department of Pharmacy, Chinese PLA General Hospital, Beijing, China;

关键词: heredity;    intrahepatic cholestasis;    genetic mutation;    molecular function;    therapy;   

DOI  :  10.3389/fphar.2023.1173542

 received in 2023-03-03, accepted in 2023-05-16,  发布年份 2023

来源: Frontiers

【 摘 要 】

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.

【 授权许可】

Unknown   
Copyright © 2023 Xie, Wei, Ma, Wang, He, Zhang, Yang, Wang, Chang, Jing, Li, Zhou and Zhao.