抄録
Wilson's disease (WD) is an autosomal recessive copper transport disorder characterized by the accumulation of intracellular copper in the liver and extrahepatic issues. Toxic accumulation of copper causes tissue damage, mainly in the liver and brain. WD is caused by a large number of mutations in the ATP7B gene. Some of the mutations appear to be population specific, whereas others are found in patients from a variety of different ethnic background. The H1069Q mutation is the most common mutation in European and North American patients with WD, while R778L mutation is found in most Asian patients. Our study showed that there were no significant differences in three clinical features (mean age at onset, number of patients with hepatic symptoms, and number of patients with neurologic symptoms) between Asian homozygotes and heterozygotes for R778L. Moreover, our study revealed that no association was found between ApoE ε3/3 genotype and WD clinical presentation in Chinese R778L homozygous, although the high frequency of ApoE ε3/3 in those Chinese R778L homozygous with WD was not significantly different from that in healthy controls. Therefore, there was different pathological presentation between Asian and Caucasian patients. WD is a treatable disease. In 2002 we have reported the efficacy of long-term (3-18 years) treatment with high-dose zinc sulphate in Chinese WD children. In the beginning of 2008 zinc acetate has been approved by the Ministry of Health, Labour and Welfare of Japan for therapy of WD patients because it do not have serious side effect. Our observations also revealed that abnormal copper levels in the liver of WD may be associated with the development of hepatocellular carcinoma. WD patients should be screened for hepatocellular carcinoma.
