| 孙尚菲,宋茂媛,丁艳,等.脊柱融合术 +脊柱侧弯矫形术联合诺西那生钠治疗脊髓性肌萎缩( SMAⅡ型) 1例[J].安徽医药,2025,29(8):1644-1647. |
| 脊柱融合术 +脊柱侧弯矫形术联合诺西那生钠治疗脊髓性肌萎缩( SMAⅡ型) 1例 |
| Spinal fusion and scoliosis combined with nusinersen sodium in the treatment of spinal muscular atrophy (SMA typeⅡ): a case report |
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| DOI：10.3969/j.issn.1009-6469.2025.08.032 |
| 中文关键词: 脊髓性肌萎缩(SMA) 脊柱融合术 脊柱侧弯矫形术 诺西那生钠 儿童 |
| 英文关键词: Spinal muscular atrophy (SMA) Spinal fusion Orthopsis of scoliosis Nusinersen Child |
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| 中文摘要: |
| 目的探索脊髓性肌萎缩( SMA)治疗方案经验。方法总结日照市人民医院儿内科 2022年 5月至 2023年 11月收治的 1例 SMA病儿应用脊柱融合术 +脊柱侧弯矫形术联合诺西那生钠治疗方案。结果病人主诉自幼运动发育落后 11余年。 1岁时基因检测报告提示 SMN1基因外显子 7纯合缺失，只能拷贝出 SMN2的 7号外显子，诊断 “SMA”。给予诺西那生钠鞘内注射治疗 6个疗程后行脊柱融合术 +脊柱侧弯矫形术，术后，病儿脊柱侧弯改善，继续诺西那生钠治疗。结论应用脊柱融合术 +脊柱侧弯矫形术联合诺西那生钠治疗 SMA病人，可有效改善运动功能，改善生活质量，延长寿命。 |
| 英文摘要: |
| Objective To explore the therapeutic experience of spinal muscular atrophy.Methods A case of spinal muscular atro-phy treated by spinal fusion and scoliosis orthosis combined with nocinazone sodium in the Department of Pediatrics Rizhao People'sHospital from May 2022 to November 2023 was summarized.Results The patient complained that his motor development was more than 11 years behind. The 1-year-old genetic test report indicated homozygous deletion of exon 7 of SMN1 gene, and only exon 7 ofSMN2 could be copied, which was the diagnosis of spinal muscular atrophy. After 6 courses of intrathecal injection of nocinate sodium,spinal fusion and scoliosis orthopedics were performed. Scoliosis was improved after surgery, and nocinate sodium therapy was contin-ued.Conclusion Spinal fusion and scoliosis combined with nosinacin sodium can effectively improve motor function, improve qualityof life and prolong life span in patients with spinal muscular atrophy. |
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