诺西那生钠治疗儿童脊髓性肌萎缩症的临床实践  

Clinical Practice of Nusinersen in the Treatment of Spinal Muscular Atrophy in Children

作　　者：邵巧燕[1] 黄庆[2] 楼印晅 曾甲斌[1] 马碧泓 李桂河 谢颖璇 施晓容[1] SHAO Qiaoyan;HUANG Qing;LOU Yinxuan;ZENG Jiabin;MA Bihong;LI Guihe;XIE Yingxuan;SHI Xiaorong(Department of Pediatrics,The First Affiliated Hospital of Fujian Medical University,Fuzhou 350005,China;Department of Anesthesiology,The First Affiliated Hospital of Fujian Medical University,Fuzhou 350005,China;Department of Neurology,The First Affiliated Hospital of Fujian Medical University,Fuzhou 350005,China)

机构地区：[1]福建医科大学附属第一医院儿科,福州350005 [2]福建医科大学附属第一医院麻醉科,福州350005 [3]福建医科大学附属第一医院神经内科,福州350005

出　　处：《福建医科大学学报》2023年第3期204-210,共7页Journal of Fujian Medical University

摘　　要：目的探讨诺西那生钠鞘内注射治疗儿童脊髓性肌萎缩症(SMA)的安全性、可行性和疗效。方法前瞻性收集2021年1月—2022年12月收治的42例SMA患儿(1型2例,2型32例,3型8例)的临床资料,患儿年龄9个月~14岁,均进行诺西那生钠鞘内注射治疗,治疗前后比较采用配对样本Wilcoxon符号秩检验。结果随访10个月,总计完成204次诺西那生钠鞘内注射治疗。局麻下完成操作30例,镇静或静脉麻醉下完成操作12例;操作部位选择L3/4或L4/5,平均穿刺(1.39±0.34)次;6例需床旁超声定位或CT引导下定位以确定位置;9例术后出现腰背痛,4例出现头痛等并发症。运动量表评估显示,汉默史密斯功能性运动量表扩展版评分[24.0(16.0,30.0)vs 17.0(5.0,26.0)]及上肢模块修订版量表分数[23.0(15.0,37.0)vs 32.0(23.0,38.0)]均较基线明显升高(Z=-3.45、-4.62;P≤0.001、0.018),用力肺活量等指标改善78.0(66.0,82.0)(Z=-3.11,P=0.010)。结论在合理有效的多学科团队管理下,诺西那生钠鞘内注射治疗可改善SMA儿童的运动功能,安全性、耐受性良好。Objective It is to investigate the efficacy,safety and feasibility of intrathecal injection of Nusinersen in the treatment of spinal muscular atrophy in children.Methods The clinical data of 42 children with SMA(2 cases of type 1,32 cases of type 2,and 8 cases of type 3)admitted from January 2021 to December 2022,aged 9 months to 14 years,were prospectively collected and treated with intrathecal injection of Nusinersen,and the Samples Wilcoxon Signed Rank Test was used for comparison before and after treatment.Results A total of 204 intrathecal injection of Nusinersen were performed for 10 months of follow-up.The operation was completed under local anesthesia in 30 cases and under sedation or intravenous anesthesia in 12 cases;L3/4 and L4/5 were selected as the operation sites,with an average of(1.39±0.34)times of puncture;6 cases required bedside ultrasound localization or CT-guided localization to determine the location;9 cases had low back pain and 4 cases had headache and other complications after surgery.Motor scale assessment results showed that both the expanded Hammersmith Functional Motor Scale scores[24.0(16.0,30.0)vs 17.0(5.0,26.0)]and the Revised Upper Limb Module scores[23.0(15.0,37.0)vs 32.0(23.0,38.0)]were significantly higher than baseline(Z=-3.45,-4.62,P<0.001,0.018),and forced vital capacity improved 78.0(66.0,82.0)(Z=-3.11,P=0.010).Conclusion Under the reasonable and efficient management of multidisciplinary team,the clinical application of intrathecal injection of Nusinersen in children with SMA is effective with good safe and tolerability.

关 键 词：诺西那生钠 鞘内注射 儿童 脊髓性肌萎缩症 

分 类 号：R746.4[医药卫生—神经病学与精神病学]