脊髓性肌萎缩症治疗研究进展
Advances in the treatment of spinal muscular atrophy
黄文琛 1瞿宇晋1
作者信息
- 1. 首都儿科研究所遗传室,北京 100020
- 折叠
摘要
脊髓性肌萎缩症(spinal muscular atrophy,SMA)是一种常染色体隐性遗传性神经肌肉病,主要特征是脊髓前角运动神经元变性导致的四肢近端进行性肌无力和肌萎缩,可累及呼吸、消化及骨骼等多个系统.未经治疗的严重1型SMA患儿通常在2岁内死亡.近年来,SMA的治疗获得飞速发展,多种药物已获批上市,患者有望从中受益.然而,现有的任何一种治疗药物和方案都不能达到完全治愈的效果,因此不同治疗策略、不同作用机制药物的联合治疗以及潜在药物的研究开发成为未来SMA治疗的发展方向.该文就SMA的治疗药物及联合治疗最新研究进展进行综述,为SMA的治疗实践提供参考.
Abstract
Spinal muscular atrophy(SMA),an autosomal recessive genetic disease characterized by progressive weakness and atrophy of the proximal limbs caused by degeneration of motor neurons in the anterior horn of the spinal cord,can affect multiple systems such as respiratory,digestive,and skeletal systems.Untreated children with severe type 1 SMA usually die within 2 years of age.In recent years,the treatment of SMA has developed rapidly,and a variety of drugs have been approved to benefit patients.However,none of the existing therapeutic drugs or regimens can achieve a complete cure.Therefore,the combination of different therapeutic drugs and the research and development of new drugs may be the way forward for the treatment of SMA.The latest progress of therapeutic drugs and combination therapy in SMA are summarized in this review,which may be helpful for guiding the treatment of SMA.
关键词
脊髓性肌萎缩症/药物治疗/联合治疗Key words
Spinal muscular atrophy/Therapeutic drugs/Combination therapy引用本文复制引用
基金项目
北京市自然科学基金项目(L212035)
北京市自然科学基金项目(7212005)
出版年
2024
NETL
NSTL
万方数据