甲基丙二酸血症神经发育障碍分析与康复策略
Analysis of neurodevelopmental disorder and rehabilitation treatment strategy of methylmalonic acidemia
郑宏 1马丙祥 1陆相朋1
作者信息
- 1. 河南中医药大学第一附属医院,河南郑州 450099;河南中医药大学儿科医学院,河南郑州 450000
- 折叠
摘要
甲基丙二酸血症又称甲基丙二酸尿症,是我国最常见的遗传代谢病之一,虽然属于罕见病,但临床并不少见.神经发育障碍是甲基丙二酸血症的主要并发症,严重影响患儿的生存质量,对于其发生发展机制及防治方法仍亟待深入研究.早期发现和识别伴有神经发育异常的甲基丙二酸血症患儿,采取及时有效干预,可最大程度降低神经系统损伤,改善长期预后.该文从甲基丙二酸血症神经发育障碍的形成原因出发,对甲基丙二酸血症患儿的神经发育特征及康复治疗策略进行阐述.
Abstract
Methylmalonic acidemia(MMA)also known as methylmalonic aciduria,is one of the the most common inherited metabolic disease in China.Although it is a rare disease,it is not uncommon in clinical practice.Nervous system injury is the main complication of methylmalonic acidemia,which seriously affects the quality of life of children.However,the occurrence,mechanism,prevention and treatment still need to be further studied.Early detection and identification of methylmalonic acidemia with neurodevelopmental disorder,and timely and effective intervention can minimize neurological damage and improve long-term prognosis.Starting from the reasons for the formation of neurodevelopmental disorders methylmalonic acidemia,the neurodevelopmental characteristics and rehabilitation treatment strategies of MMA are described.
关键词
甲基丙二酸血症/儿童/神经发育/康复Key words
methylmalonic acidemia/child/neurodevelopment/rehabilitation引用本文复制引用
基金项目
国家自然科学基金面上项目(82274579)
国家自然科学基金青年基金项目(82104929)
国家中医临床研究基地科研专项(2021JDZY027)
河南省高等学校重点科研项目(21A360004)
河南省科技厅科技攻关项目(212102310364)
出版年
2024
国家科技期刊平台
NSTL
万方数据