Advances in the study of familial intrahepatic cholestasis / 中华实用儿科临床杂志

ABSTRACT

Hereditary intrahepatic cholestasis is an important cause of death or disability in childhood. With the development of molecular medicine,a series of familial intrahepatic cholestasis caused by gene mutations (ATP8B1 deficiency,ABCB11 deficiency,ABCB4 deficiency,TJP2 deficiency,NR1H4 deficiency and MYO5B deficiency)have been discovered successively. If these patients do not receive early intervention,they often develop liver cirrhosis and liver failure in childhood. Therefore,early diagnosis and intervention are very important for improving prognosis.