在nusinersen治疗后,脊椎肌肉缩 (SMA) 1型的常见并发症
Yiğithan Güzin1, Osman Büyükşen1, Pınar Gençpınar2,3
1Department of Pediatric Neurology, Tepecik Training and Research Hospital, University of Health Sciences, İzmir, Türkiye.
1型脊柱肌缩 (SMA) 的新疗法并没有显著降低高死亡率. 随着生存时间的增加,并发症的增加,需要对这些SMA患者提供多学科的护理.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 脊柱肌肉缩 (SMA) 是一种遗传性疾病,导致肌肉逐渐衰弱和缩.
- 尽管最近有治疗方面的进展,但由于肌肉衰弱并发症,SMA患者的死亡率和发病率仍然很高.
- 了解治疗后的挑战对于改善SMA患者的治疗结果至关重要.
研究的目的:
- 在接受新治疗的1型脊髓肌肉缩 (SMA) 患者中识别常见并发症.
- 分析与这些并发症相关的管理困难.
- 为了比较幸存者和已故的SMA患者之间的并发症.
主要方法:
- 对16名在2017-2022年期间被诊断为SMA型1患者的回顾性分析.
- 为了对并发症进行比较分析,将其分为活体和死体.
- 评估临床发现,遗传结果和治疗史.
主要成果:
- 一半的患者 (8/16) 是女性,中位数诊断年龄为3个月.
- 常见的问题包括胃肠道问题,骨科问题,感染,败血症和呼吸困扰.
- 死亡率为50% (8/16名患者),需要气管切除术或胃食道逆流患者的死亡率更高. 改善的生存率与nusinersen治疗和更高的CHOP-INTEND分数相关.
结论:
- 高发病率和高死亡率仍然存在于SMA类型1中,尽管有新疗法.
- 增加SMA类型1的存活率会导致类似于SMA类型2和3的并发症.
- 多学科的团队方法对于管理SMA患者至关重要.
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