肝豆状核变性(HLD),又称Wilson病,是一种常染色体隐性遗传的铜代谢障碍性疾病,相关基因已被明确定位于13q14.3.该病可累及多个器官,临床表现多样,疾病早期易被误诊,如能早期诊断、及时有效地治疗可以阻止疾病进展,改善临床症状.目前临床上主要通过金属螯合剂及锌制剂等方法进行对症治疗,目前尚无彻底治愈的方法.未来干细胞移植及基因治疗的进一步研究有望达到根治该病的目的.%Hepatolenticular degeneration, or Wilson disease, is a autosomal recessive genetic disorder of copper metabolism,and the responsible gene has been identified on chromosome 13ql4. 3. It involves many organs, the clinical range of which is wide, the diagnosis is early overlooked, but if discovered early, effective treatments will prevent or reverse many manifestations of this disorder. Presently there are several chelating a-gents and zinc salts for clinical therapy, but there is on cure for this disorder so far. The stem cell transplantation and gene therapy will hopefully achieve cures for this disease.
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