诺西那生钠治疗症状前5q脊髓性肌萎缩症1例疗效分析

doi:10.12372/jcp.2022.21e1539

临床儿科杂志 ›› 2022, Vol. 40 ›› Issue (3): 208-211.doi: 10.12372/jcp.2022.21e1539

诺西那生钠治疗症状前5q脊髓性肌萎缩症1例疗效分析

罗智强, 路新国(), 刘丽琴, 廖建湘

深圳市儿童医院神经内科（广东深圳 518038）

收稿日期:2021-11-05 出版日期:2022-03-15 发布日期:2022-03-09
通讯作者: 路新国 E-mail:szluxg2002@163.com
基金资助:
深圳市医疗卫生三名工程项目(SZSM201812005);广东省高水平临床重点专科(深圳市配套建设经费)资助(SZGSP012);深圳市医学重点学科建设经费资助(SZXK033)

Clinical efficacy of nusinersen in treating presymptomatic 5q spinal muscular atrophy: a case report and literature review

LUO Zhiqiang, LU Xinguo(), LIU Liqin, LIAO Jianxiang

Department of Neurology, Shenzhen Children's Hospital, Shenzhen 518038, Guangdong, China

Received:2021-11-05 Online:2022-03-15 Published:2022-03-09
Contact: LU Xinguo E-mail:szluxg2002@163.com

摘要/Abstract

摘要：

为探讨诺西那生钠治疗症状前5q脊髓性肌萎缩症（SMA）的临床疗效,回顾性收集1例症状前5q SMA患儿的临床资料、药物治疗经过及随访结果,并结合国外病例报道进行分析。患儿为女性,10月龄,因存在SMA家族史出生后常规MLPA检测发现SMN1基因7、8号外显子纯合缺失,SMN2基因2个拷贝数。患儿四肢肌力、肌张力正常,运动功能良好,确诊为症状前5q SMA。按计划予诺西那生钠鞘内注射治疗,目前已完成5剂治疗,无不良反应,运动发育里程碑基本正常。提示5q SMA患儿于症状前开始接受诺西那生钠治疗获益最大,其运动发育里程碑有望达到正常水平。

关键词: 5q脊髓性肌萎缩症, 诺西那生钠, 临床疗效

Abstract:

To explore the clinical efficacy of nusinersen in treating presymptomatic 5q spinal muscular atrophy (SMA). The relevant clinical data, from a baby with presymptomatic 5q SMA were retrospectively collected, and a comprehensive analysis was made based on the existing literature. A 10-month-old girl got MLPA examination after birth because of the family history of SMA, and the results showed the homozygous deletions of SMN1 gene exon 7 and 8 and two copies of SMN2 gene. Physical examination showed that she had normal muscle strength and tone and good motor function, and therefore she was diagnosed with presymptomatic 5q SMA. Five doses of nusinersen have been treated by intrathecal injection according to the medication plan, and no adverse reactions have been observed. The milestones of motor development are basically normal. It is suggested that nusinersen treatment during the presymptomatic stage can achieve the best effect in children with 5q SMA, and the motor development milestone is expected to reach the normal level.

Key words: 5q spinal muscular atrophy, nusinersen, clinical efficacy

罗智强, 路新国, 刘丽琴, 廖建湘. 诺西那生钠治疗症状前5q脊髓性肌萎缩症1例疗效分析[J]. 临床儿科杂志, 2022, 40(3): 208-211.

LUO Zhiqiang, LU Xinguo, LIU Liqin, LIAO Jianxiang. Clinical efficacy of nusinersen in treating presymptomatic 5q spinal muscular atrophy: a case report and literature review[J]. Journal of Clinical Pediatrics, 2022, 40(3): 208-211.

图/表 3

参考文献 16

[1]	Mercuri E, Darras BT, Chiriboga CA, et al. Nusinersen versus sham control in later-onset spinal muscular atrophy[J]. N Engl J Med, 2018, 378(7): 625-635. doi: 10.1056/NEJMoa1710504
[2]	Arnold ES, Fischbeck KH. Spinal muscular atrophy[J]. Handb Clin Neurol, 2018, 148: 591-601.
[3]	Finkel RS, Chiriboga CA, Vajsar J, et al. Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study[J]. Lancet, 2016, 388(10063): 3017-3026. doi: 10.1016/S0140-6736(16)31408-8
[4]	Hoy SM. Nusinersen: a review in 5q spinal muscular atrophy[J]. CNS Drugs, 2021, 35(12): 1317-1328. doi: 10.1007/s40263-021-00878-x
[5]	Kolb SJ, Kissel JT. Spinal muscular atrophy[J]. Neurol Clin, 2015, 33(4): 831-846. doi: 10.1016/j.ncl.2015.07.004
[6]	Ross LF, Kwon JM. Spinal muscular atrophy: past, present, and future[J]. Neoreviews, 2019, 20(8): e437-e451. doi: 10.1542/neo.20-8-e437
[7]	Serra-Juhe C, Tizzano EF. Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors[J]. Eur J Hum Genet, 2019, 27(12): 1774-1782. doi: 10.1038/s41431-019-0415-4 pmid: 31053787
[8]	陈瑜毅, 韩蕴丽, 李杏, 等. 31例儿童脊髓性肌萎缩症临床与基因分析[J]. 临床儿科杂志, 2021, 39(10): 745-749.
[9]	Calucho M, Bernal S, Alías L, et al. Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases[J]. Neuromuscul Disord, 2018, 28(3): 208-215. doi: 10.1016/j.nmd.2018.01.003
[10]	Finkel RS, McDermott MP, Kaufmann P, et al. Obser-vational study of spinal muscular atrophy type I and implications for clinical trials[J]. Neurology, 2014, 83(9): 810-817. doi: 10.1212/WNL.0000000000000741
[11]	Hua Y, Sahashi K, Hung G, et al. Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model[J]. Genes Dev, 2010, 24(15): 1634-1644. doi: 10.1101/gad.1941310
[12]	De Vivo DC, Bertini E, Swoboda KJ, et al. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: interim efficacy and safety results from the Phase 2 NURTURE study[J]. Neuromuscul Disord, 2019, 29(11): 842-856. doi: 10.1016/j.nmd.2019.09.007
[13]	Vill K, Kölbel H, Schwartz O, et al. One year of newborn screening for SMA - results of a German Pilot Project[J]. J Neuromuscul Dis, 2019, 6(4): 503-515.
[14]	Butterfield RJ. Spinal muscular atrophy treatments, newborn screening, and the creation of a neurogenetics urgency[J]. Semin Pediatr Neurol, 2021, 38: 100899. doi: 10.1016/j.spen.2021.100899 pmid: 34183144
[15]	Albrechtsen SS, Born AP, Boesen MS. Nusinersen treatment of spinal muscular atrophy - a systematic review[J]. Dan Med J, 2020, 67(9): A02200100.
[16]	Jalali A, Rothwell E, Botkin JR, et al. Cost-effectiveness of nusinersen and universal newborn screening for spinal muscular atrophy[J]. J Pediatr, 2020, 227: 274-280. doi: 10.1016/j.jpeds.2020.07.033

诺西那生钠治疗症状前5q脊髓性肌萎缩症1例疗效分析

Clinical efficacy of nusinersen in treating presymptomatic 5q spinal muscular atrophy: a case report and literature review

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