摘要
21世纪精准医学的发展引领了一个新的医学时代，为特色疾病的诊治带来了一套精准的治疗方案。精准医学时期兴起的遗传病检测新技术基因二代测序技术和拷贝数变异检测技术为小儿神经系统遗传病、罕见病的诊治提供了巨大帮助，尤其为肌酸缺乏综合征、吡哆醇依赖性癫痫、1型葡萄糖转运体缺陷综合征、婴儿游走性部分性癫痫、GRIN2A相关性早发性癫痫脑病、KCNQ2相关性癫痫等疾病提供了个体化药物治疗。精准医学的到来，无疑为小儿神经系统遗传病、罕见病的诊治带来了划时代的革命。
The development of precision medicine in 21st century has accelerated a new area of medicine, bringing a precise project of diagnosis and treatment. The new techniques for genetic diseases including next generation sequencing and copy number variation deteetion technology have facilitated the diagnosis and treatment of genetic and rare diseases in children＇s neural system, providing a new directed therapies especially for ereatine deficiency syn- dromes, pyridoxine dependent epilepsy, glucose transporter type 1 deficiency syndrome, malignant migrating partial sei- zures in infancy, GRIN2A - related early - onset epileptic encephalopathy, KCNQ2 - related epilepsies. With the new area of precision medicine arrival, an epoch - making revolution for the diagnosis and treatment of genetic and rare diseases in children＇s neural system is coming towards us.
出处
《中华实用儿科临床杂志》
CSCD
北大核心
2016年第12期951-955,共5页
Chinese Journal of Applied Clinical Pediatrics
关键词
精准医学
遗传病
诊断
治疗
Precision medicine
Genetic disease
Diagnosis
Treatment
