摘要
为探讨诺西那生钠治疗症状前5 q脊髓性肌萎缩症(SMA)的临床疗效,回顾性收集1例症状前5 q 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5 q 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5 q 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。
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 SMN 1 gene exon 7 and 8 and two copies of SMN 2 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.
作者
罗智强
路新国
刘丽琴
廖建湘
LUO Zhiqiang;LU Xinguo;LIU Liqin;LIAO Jianxiang(Department of Neurology,Shenzhen Children's Hospital,Shenzhen 518038,Guangdong,China)
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2022年第3期208-211,共4页
Journal of Clinical Pediatrics
基金
深圳市医疗卫生三名工程项目(No.SZSM201812005)
广东省高水平临床重点专科(深圳市配套建设经费)资助(No.SZGSP012)
深圳市医学重点学科建设经费资助(No.SZXK033)。
