诺西那生钠治疗脊柱侧凸脊髓性肌萎缩症患者的疗效及安全性研究

doi:10.12372/jcp.2025.24e1128

摘要/Abstract

摘要：

目的探究诺西那生钠在合并脊柱侧凸脊髓性肌萎缩症（spinal muscular atrophy，SMA）患者中的疗效及安全性。方法回顾性分析2022年1月至2024年6月脊柱中心规律接受诺西那生钠治疗的脊柱侧凸SMA患者的临床资料，包括电子病历系统采集的基本信息、手术史、影像学检查等。随访期间，选用患者上肢模块修订版评分（RULM）、汉默史密斯功能性运动量表扩展版（HFMSE）和脊髓性肌萎缩症独立量表-上肢模块（SMAIS-ULM）三种量表对患者进行评估，并与治疗前基线数据比较。结果共22例SMA患者被纳入分析，中位年龄13.2(9.8~21.8)岁，近半数患者（41%）独坐不能，治疗前Cobb角101.0(42.3~121.3)度，其中17例患者（77.3%）在随访期内接受了脊柱侧凸矫正手术，中位随访时间22(13~26)月。经诺西那生钠治疗后，患者RULM评分提升（P<0.001），18例患者（81.8%）的运动功能得到具临床意义的改善。此外，患者及照护者的SMAIS-ULM评分也有提升。治疗过程中，13例患者（59.1%）报告了头晕、恶心、鞘注部位疼痛等不良反应，另有2例出现腹泻、脱发。结论诺西那生钠能改善合并脊柱侧凸SMA患者的上肢运动功能并提高其生活自理独立性，该效果独立于手术影响，且安全性良好。

关键词: 脊髓性肌萎缩症, 诺西那生钠, 脊柱侧凸

Abstract:

Objective To investigate the efficacy and safety of nusinersen in patients with spinal muscular atrophy (SMA) complicated by scoliosis. Methods A retrospective analysis was performed on the clinical data of SMA patients with scoliosis who regularly received nusinersen treatment at the Spinal Center of our hospital from January 2022 to June 2024. The data encompassed basic information, surgical history, imaging examinations, etc., collected from the electronic medical record system. During the follow-up period, three scales, namely the Revised Upper Limb Module (RULM) score, the Hammersmith Functional Motor Scale-Expanded (HFMSE), and the Spinal Muscular Atrophy Independence Measure-Upper Limb Module (SMAIS-ULM), were employed to assess the patients. The results of these assessments were compared with pre-treatment baseline data. Results A total of 22 SMA patients were included in the analysis. The median age was 13.2 (9.8-21.8) years, and nearly half of the patients (41%) were unable to sit independently. The median pre-treatment Cobb angle was 101.0 (42.3-121.3) degrees, and 17 of these patients (77.3%) underwent scoliosis correction surgery during follow-up period. The median follow-up duration was 22 (13-26) months. After treatment with nusinersen, the RULM scores of the patients were significantly improved (P<0.001). The motor function of 18 patients (81.8%) showed clinically meaningful improvement. Moreover, the SMAIS-ULM scores of both the patients and their caregivers also increased. During the treatment process, 13 patients (59.1%) reported adverse reactions such as dizziness, nausea, and pain at the site of intrathecal injection. Additionally, 2 patients presented with diarrhea and alopecia. Conclusions Nusinersen has been shown to improve upper limb motor function in SMA patients complicated by scoliosis and enhance their independence in daily activities. This effect appears to be independent of surgical intervention and is associated with a favorable safety profile.

Key words: spinal muscular atrophy, nusinersen, scoliosis

中图分类号:

刘昕竹, 幸小东, 刘宇, 刘艳, 蒋文高, 张健, 杨军林. 诺西那生钠治疗脊柱侧凸脊髓性肌萎缩症患者的疗效及安全性研究[J]. 临床儿科杂志, 2025, 43(10): 727-733.

LIU Xinzhu, XING Xiaodong, LIU Yu, LIU Yan, JIANG Wengao, ZHANG Jian, YANG Junlin. Efficacy and safety of nusinersen in spinal muscular atrophy patients with scoliosis[J]. Journal of Clinical Pediatrics, 2025, 43(10): 727-733.

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参考文献 26

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项目	合计(n=22)	Ⅰ型(n=4)	Ⅱ型(n=12)	Ⅲ型(n=6)
性别[n(%)]
男	8(36.4)	2(50.0)	3(25.0)	3(50.0)
女	14(63.6)	2(50.0)	9(75.0)	3(50.0)
发病年龄[M(P₂₅~P₇₅)]/岁	0.9(0.5~1.5)	0.4(0.3~0.5)	0.8(0.6~1.2)	1.5(1.4~6.3)
入组年龄[M(P₂₅~P₇₅)]/岁	13.2(9.8~21.8)	4.8(0.6~18.0)	12.6(9.8~18.3)	19.1(13.6~26.1)
体质指数[M(P₂₅~P₇₅)/ kg·m^-2]	16.8(12.9~22.5)	13.3(9.4~16.1)	16.8(13.1~22.7)	18.9(15.9~24.1)
独走[n(%)]	2(9.0)	1(50.0)	1(50.0)	0(0)
独坐[n(%)]	11(50.0)	1(9.1)	6(54.5)	4(36.4)
SMN2的拷贝数[n(%)]
2拷贝	3(13.6)	1(33.3)	0(0)	2(66.7)
3拷贝	18(81.8)	3(16.7)	12(66.7)	3(16.7)
4拷贝	1(4.5)	0(0)	0(0)	1(100)
Cobb角[M(P₂₅~P₇₅)]/°	101.0(42.3~121.3)	59.0(12.3~120.0)	100.0(48.5~117.5)	105.5(75.0~142.8)
脊柱侧凸矫正术[n(%)]	17(77.3)	2(11.8)	10(58.8)	5(29.4)
肺通气功能限制性障碍[n(%)]	8(36.4)	2(25.0)	4(50.0)	2(25.0)
吞咽困难、饮水呛咳[n(%)]	6(27.3)	2(33.3)	3(50.0)	1(16.7)