中国当代儿科杂志2025，Vol.27Issue(4)：458-464,7.DOI:10.7499/j.issn.1008-8830.2411114
诺西那生钠联合利司扑兰治疗脊髓性肌萎缩症10例并文献复习
Nusinersen combined with risdiplam for the treatment of spinal muscular atrophy:a case series of 10 patients and literature review
段浩林 1张慈柳 1杨丽芬 1何芳 1毛蕾蕾 1彭镜2
作者信息
- 1. 中南大学湘雅医院儿童医学中心,湖南 长沙 410008
- 2. 中南大学湘雅医院儿童医学中心,湖南 长沙 410008||湖南省儿童脑发育障碍性疾病临床医学研究中心,湖南 长沙 410008
- 折叠
摘要
Abstract
Objective To explore the efficacy and adverse reactions of nusinersen combined with risdiplam in the treatment of spinal muscular atrophy(SMA).Methods A retrospective analysis was conducted on the clinical data of 10 pediatric SMA patients treated with nusinersen combined with risdiplam at the Children's Medical Center of Xiangya Hospital,Central South University.Results Among the 10 SMA patients,there were 4 with type Ⅰ,4 with type Ⅱ,and 2 with type Ⅲ.Nine patients initially received nusinersen monotherapy,while 1 patient received nusinersen combined with risdiplam.The median duration of combination therapy with nusinersen and risdiplam for the 10 patients was 10.5 months(range:0.5-20.0 months),with 6 patients undergoing combination therapy for more than 6 months,showing improvements in motor and/or respiratory function.The remaining 4 patients had combination treatment durations of 0.5,1.0,1.3,and 4.0 months,respectively,with no significant overall improvement.After combined treatment,5 patients experienced skin hyperpigmentation,2 had lumbar puncture site pain,1 experienced vomiting,1 had increased sputum production,and 1 had reduced total sleep time.All adverse reactions were mild and did not require medical intervention.Conclusions Nusinersen combined with risdiplam demonstrates efficacy in the treatment of SMA,and no significant adverse reactions have been observed.关键词
脊髓性肌萎缩症/诺西那生钠/利司扑兰/联合治疗/儿童Key words
Spinal muscular atrophy/Nusinersen/Risdiplam/Combination therapy/Child引用本文复制引用
段浩林,张慈柳,杨丽芬,何芳,毛蕾蕾,彭镜..诺西那生钠联合利司扑兰治疗脊髓性肌萎缩症10例并文献复习[J].中国当代儿科杂志,2025,27(4):458-464,7.
