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

作　　者：段浩林 张慈柳[1] 杨丽芬[1] 何芳[1] 毛蕾蕾 彭镜[1,2] DUAN Hao-Lin;ZHANG Ci-Liu;YANG Li-Fen;HE Fang;MAO Lei-Lei;PENG Jing(Children's Medical Center,Xiangya Hospital,Central South University,Changsha 410008,China)

机构地区：[1]中南大学湘雅医院儿童医学中心,湖南长沙410008 [2]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

出　　处：《中国当代儿科杂志》2025年第4期458-464,共7页Chinese Journal of Contemporary Pediatrics

摘　　要：目的探讨诺西那生钠联合利司扑兰治疗脊髓性肌萎缩症(spinal muscular atrophy,SMA)的有效性和不良反应。方法回顾性分析中南大学湘雅医院儿童医学中心收治的10例诺西那生钠联合利司扑兰治疗的SMA患儿的临床资料。结果10例SMA患儿中,Ⅰ型4例,Ⅱ型4例,Ⅲ型2例,其中9例首选诺西那生钠单药治疗,1例首选诺西那生钠联合利司扑兰治疗。10例患儿联合治疗的中位时间为10.5个月(范围:0.5~20.0)个月,其中6例联合治疗超过6个月,运动和/或呼吸功能有所改善;余4例联合治疗时长分别为0.5、1.0、1.3和4.0个月,整体改善不显著。联合治疗后,5例患儿出现皮肤变黑,2例腰椎穿刺部位疼痛,1例呕吐,1例痰液增多,1例全天睡眠时间减少,所有不良反应均为轻度,无需药物干预。结论诺西那生钠联合利司扑兰治疗SMA有一定疗效,且未见明显不良反应。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 

分 类 号：R746.4[医药卫生—神经病学与精神病学]