摘要
Wilson病亦称肝豆状核变性,是临床上较少见的内源性铜代谢障碍性疾病,属于常染色体隐性遗传,若早期发现和及时治疗,临床正确治疗可基本痊愈。目前药物的生产和研发还是需要进一步的推动,确定的基因诊断和精准治疗需要基础和临床医学的进一步的通力合作。
Hepatolenticular degeneration,also known as Wilson's disease,is an autosomal recessive inherited disorder of copper metabolism,if the early detection and timely treatment,the patients can be almost cured. At present,the production and research of anticopper drugs still need to be further promoted. The need for further collaboration between basic and clinical medicine in the identification of gene diagnosis and precision therapy.
出处
《重庆医科大学学报》
CSCD
北大核心
2017年第6期667-668,共2页
Journal of Chongqing Medical University
基金
国家自然基金资助项目(编号:81410308009)
关键词
WILSON病
罕见病
诊断
治疗
Wilson's disease
rare disease
diagnosis
treatment