目的 探讨诺西那生钠治疗脊髓性肌萎缩症（spinal muscular atrophy, SMA）患儿的疗效及安全性。 方法 回顾性分析2022年2月—2024年2月于山西省儿童医院接受诺西那生钠治疗及多学科协作诊疗管理随访的50例5q SMA患儿的临床资料。 结果 与基线相比，分别有67%（8/12）、74%（35/47）、74%（35/47）的SMA患儿费城儿童医院婴儿神经肌肉疾病测试、Hammersmith功能性运动量表扩展版（Hammersmith Functional Motor Scale Expanded）、上肢模块修订版（Revised Upper Limb Module）评分结果有临床意义的改善；6 min步行试验的距离从207.00（179.00，281.50）m增至233.00（205.25，287.50）m（P<0.05）。24例（48%）SMA患儿给予诺西那生钠后耐受良好，2 034个实验室结果中无显著、持续性异常，未观察到严重或相关免疫学不良事件发生。27例存在限制性通气功能障碍者的用力肺活量占预测值百分比及15例维生素D缺乏者的25-(OH)D水平治疗前后比较差异有统计学意义（P<0.05）。 结论 SMA患儿经诺西那生钠治疗后，运动功能量表应答比例持续提升，且耐受性及安全性良好。
Abstract
Objective To investigate the efficacy and safety of nusinersen sodium in the treatment of children with spinal muscular atrophy (SMA). Methods A retrospective analysis was conducted on the clinical data of 50 children with 5q SMA who received nusinersen sodium treatment and multidisciplinary treatment management in Shanxi Children's Hospital from February 2022 to February 2024. Results Compared with the baseline data, 67% (8/12), 74% (35/47), and 74% (35/47) of the SMA children had a clinically significant improvement in the scores of Philadelphia Infant Test of Neuromuscular Disorders, Hammersmith Functional Motor Scale Expanded, and Revised Upper Limb Module, respectively, and the distance of 6-minute walking test increased from 207.00 (179.00, 281.50) meters to 233.00 (205.25, 287.50) meters (P<0.05) after nusinersen sodium treatment. Of all 50 children with SMA, 24 (48%) showed good tolerability after administration, with no significant or persistent abnormalities observed in 2 034 laboratory test results, and furthermore, there were no serious or immunological adverse events related to the treatment. After treatment, there was a significant change in forced vital capacity as a percentage of the predicted value in 27 children with restrictive ventilatory dysfunction, as well as a significant change in the level of 25-(OH) vitamin D in 15 children with vitamin D deficiency (P<0.05). Conclusions For children with SMA, treatment with nusinersen sodium can continuously improve the response rates of motor function scales, with good tolerability and safety.
关键词
脊髓性肌萎缩症 /
诺西那生钠 /
疗效 /
安全性 /
儿童
Key words
Spinal muscular atrophy /
Nusinersen sodium /
Efficacy /
Safety /
Child
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参考文献
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