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Abstract：
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.
摘要：
由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，这涉及到合成的异常，分泌，和其他胆汁酸代谢紊乱。由于多种基因突变的存在,儿童的临床表现也多种多样。没有统一的诊断标准和单一的检测方法，严重阻碍了临床治疗的发展。因此,本文系统描述了遗传性肝内胆汁淤积症的突变基因。
