关键词: 肝豆状核变性；, 代谢缺陷, 先天性；, 肝功能衰竭, 急性；, 孕妇；, 治疗

Abstract: Hepatolenticular degeneration (HLD) is an autosomal recessive disorder of congenital copper metabolism. The causative gene is the ATP7B located on chromosome 13q14.3, which leads to the functional defect of ATP7B. Those untreated female patients may cause spontaneous miscarriage or infertility. It is extremely rare that HLD patients have the natural pregnancy with a successful outcome. Symptoms of liver injury are the main clinical manifestations of HLD. However, acute hepatic failure is rare in HLD patients. Acute hepatic failure in HLD patients is characterized by rapid progression, poor prognosis and high mortality. A case of acute hepatic failure and hemolysis in a pregnant HLD women was reported, with a review of literatures, in order to explore the clinical characteristics and treatment methods.

Key words: Hepatolenticular degeneration；, Metabolism, inborn errors；, Liver failure, acute；, Pregnant women；, Therapy