神经系统遗传性金属代谢障碍病的研究现状及面临的挑战  

Research status of inherited disorders of metal metabolism in nervous system and the challenges faced

作　　者：董毅 李宏福 DONG Yi;LI Hong-Ju(Department of Neurology and Medical Genetics,the Second Affiliated Hospital,Zhejiang University School of Medicine,Hangzhou 310009,China)

机构地区：[1]浙江大学医学院附属第二医院神经内科医学遗传科,浙江杭州310009

出　　处：《中国实用内科杂志》2022年第4期278-282,共5页Chinese Journal of Practical Internal Medicine

基　　金：国家自然科学基金(82171238,81701126)。

摘　　要：神经系统遗传性金属代谢障碍病是一大类疾病,与体内金属微量元素稳态破坏相关,临床表现复杂,致病基因众多,属于罕见病。目前临床医生对本病存在认识不足,延误诊治现象。文章就3类相对常见的遗传代谢病的临床特点、致病基因、诊断与治疗进行阐述,以期提高对本病的诊疗水平。Inherited disorders of metal metabolism in nervous system are a large group of diseases,which are related to the steady-state destruction of metal trace elements in brain.The clinical manifestations of these rare disease are complicated,with many causative genes.Currently,clinicians have insufficient understanding of the diseases and delay in diagnosis and treatment.The article focused on the clinical features,genes,diagnosis and treatment of three types of relatively common metabolic diseases,in order to improve the level of diagnosis and treatment.

关 键 词：遗传性金属代谢障碍病 肝豆状核变性 脑组织铁沉积神经变性病 原发性家族性脑钙化症 

分 类 号：R741[医药卫生—神经病学与精神病学]