中国实用儿科杂志

中国实用儿科杂志 ›› 2025, Vol. 40 ›› Issue (11): 958-963.DOI: 10.19538/j.ek2025110616

• 病例报告 • 上一篇    下一篇

诺西那生钠治疗症状前脊髓性肌萎缩患儿1例长期随访分析

  

  1. 1.山东大学附属儿童医院  济南市儿童医院神经内科，山东  济南  250022；2.山东第一医科大学附属中心医院  济南市中心医院超声科，山东  济南  250013
  • 出版日期:2025-11-06 发布日期:2025-12-12
  • 通讯作者: 刘芳芳，电子信箱：liufangfangqfs@126.com
  • 基金资助:
    济南市卫生健康委员会科技计划项目（2021-2-105）

Long-term follow-up and analysis of a child with pre-symptomatic spinal muscular atrophy treated with Nusinersen

  1. *Department of Neurology，Children’s Hospital Affiliated to Shandong University；Jinan Children’s Hospital，Jinan  250022，China
  • Online:2025-11-06 Published:2025-12-12

摘要： 5q型脊髓性肌萎缩症（spinal muscular atrophy，SMA）是一种常染色体隐性遗传运动神经元病，以对称性、进行性加重的肌肉萎缩和肌力减退为主要临床表现。诺西那生钠为反义寡核苷酸，通过靶向特定核苷酸序列，调控运动神经元存活基因（survival motor neuron gene，SMN）2的转录，增加全长SMN蛋白的产生，改善5q SMA患者的症状。目前缺乏诺西那生钠基因修正治疗症状前5q SMA患儿的长期随访数据。该文对2022年2月19日山东大学附属儿童医院收治的1例SMN2基因外显子7拷贝数为3、在症状前接受诺西那生钠治疗的5q SMA患儿进行了长达44个月的随访分析。治疗后患儿运动功能发育正常，随访过程中肌电图未见运动神经损伤改变、脑脊液神经纤维丝轻链蛋白（neurofilament light chain，Nfl）水平维持正常范围，尚未发现不良反应。提示症
状前5q SMA患儿长期应用诺西那生钠治疗可实现正常运动功能发育，且安全性好。

关键词:

Abstract: 5q Spinal muscular atrophy（SMA）is an autosomal recessive motor neuron disease，characterized clinically by symmetrical and progressive muscle atrophy and decreased muscle strength.Nusinersen is an antisense oligonucleotide that regulates the transcription of survival motor neuron gene 2（SMN2）by targeting specific nucleotide sequences to increase the production of full-length SMN protein and relieve symptoms in patients with 5q SMA.At present，the Chinese Mainland lacks long-term follow-up data of pre-symptomatic patients with 5q SMA treated with Nusinersen.In this article，we reported a patient admitted to Children’s Hospital Affiliated to Shandong University on February 19，2022 with 5q SMA who had 3 copies of SMN2 gene exon 7 treated with Nusinersen before symptom onset and had been followed up for more than 44 months.After treatment，the patient’s motor function developed normally and there was no neurogenic damage on electromyogram during follow-up， and the cerebrospinal fluid neurofilament light chain（Nfl）levels remained within the normal range； there was no adverse reaction.It is suggested that pre-symptomatic patients with 5q SMA can achieve normal motor development through long-term treatment with Nusinersen， which has good safety.

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