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
School of Traditional Chinese Medicine, Southern Medical University, Guangzhou, China.
Department of Anatomy, Histology and Embryology, School of Basic Medical Sciences, Health Science Center, Peking University, Beijing, China.
Front Pharmacol. 2023 May 31;14:1173542. doi: 10.3389/fphar.2023.1173542. eCollection 2023.
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.
一类常染色体基因突变引起的遗传性胆汁淤积性肝病会导致黄疸，这涉及胆汁酸代谢的合成、分泌异常及其他紊乱。由于存在多种基因突变，儿童的临床表现也多种多样。诊断没有统一标准，单一检测方法也严重阻碍了临床治疗的发展。因此，本综述对遗传性肝内胆汁淤积的突变基因进行了系统描述。
