Nusinersen疗法改变了1型脊髓性肌萎缩症的自然病程:脊柱和髋关节怎么办?

IF 1.3 4区 医学 Q3 ORTHOPEDICS Journal of Childrens Orthopaedics Pub Date : 2024-03-08 eCollection Date: 2024-06-01 DOI:10.1177/18632521241235028
Niyazi Erdem Yasar, Guzelali Ozdemir, Elif Uzun Ata, Mustafa Okan Ayvali, Naim Ata, Mahir Ulgu, Ebru Dumlupınar, Suayip Birinci, Izzet Bingol, Senol Bekmez
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引用次数: 0

摘要

目的:1 型脊髓性肌萎缩症的自然病程极具破坏性,在不行动的患者中,病程严重者会出现脊柱侧弯和髋关节脱位。美国食品和药物管理局批准的脊髓性肌肉萎缩症治疗药物 Nusinersen 可延长患者的生存期并增强运动功能。然而,它对脊柱和髋关节畸形的影响仍不清楚:在一项回顾性研究中,纳入了29名出生于2017年至2021年间、经基因检测确认、接受过鞘内努西那生治疗并已在国家电子健康数据库注册的1型脊髓性肌萎缩症患者。研究人员收集了患者的人口统计学资料、首次使用努西能森剂量时的年龄、总用药量以及费城儿童神经肌肉疾病婴儿测试评分。放射学评估包括肋骨畸形、脊柱侧弯、骨盆倾斜和髋关节脱位:平均年龄为(3.7±1.1)岁(2-6岁),鞘内注射奴西那生的平均次数为(8.9±2.9)次(4-19次)。费城儿童神经肌肉疾病婴儿测试评分与奴西奈森用药次数之间存在明显相关性(r = 0.539,p = 0.05)。费城儿童神经肌肉疾病婴儿测试评分与患者年龄(r = 0.361)或首次服用奴西那生的时间(r = 0.39)之间的相关性不显著(分别为 p = 0.076 和 p = 0.054)。虽然93.1%的患者有脊柱侧弯,69%的患者有骨盆倾斜,60.7%的患者有髋关节半脱位,但这些情况与患者年龄、纽西奈森总用药量、首次用药年龄或费城儿童神经肌肉疾病婴儿测试评分均无显著关联:结论:疾病修饰疗法可显著改善1型脊髓性肌萎缩症患者的总体存活率和运动功能。然而,在大多数病例中,进行性脊柱畸形和髋关节脱位仍然是需要解决的重要问题。
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Nusinersen therapy changed the natural course of spinal muscular atrophy type 1: What about spine and hip?

Purpose: Spinal muscular atrophy type 1 has a devastating natural course and presents a severe course marked by scoliosis and hip subluxation in nonambulatory patients. Nusinersen, Food and Drug Administration-approved spinal muscular atrophy therapy, extends survival and enhances motor function. However, its influence on spinal and hip deformities remains unclear.

Methods: In a retrospective study, 29 spinal muscular atrophy type 1 patients born between 2017 and 2021, confirmed by genetic testing, treated with intrathecal nusinersen, and had registered to the national electronic health database were included. Demographics, age at the first nusinersen dose, total administrations, and Children's of Philadelphia Infant Test of Neuromuscular Disorders scores were collected. Radiological assessments included parasol rib deformity, scoliosis, pelvic obliquity, and hip subluxation.

Results: Mean age was 3.7 ± 1.1 (range, 2-6), and average number of intrathecal nusinersen administration was 8.9 ± 2.9 (range, 4-19). There was a significant correlation between Children's of Philadelphia Infant Test of Neuromuscular Disorders score and the number of nusinersen administration (r = 0.539, p = 0.05). The correlation between Children's of Philadelphia Infant Test of Neuromuscular Disorders score and patient age (r = 0.361) or the time of first nusinersen dose (r = 0.39) was not significant (p = 0.076 and p = 0.054, respectively). While 93.1% had scoliosis, 69% had pelvic obliquity, and 60.7% had hip subluxation, these conditions showed no significant association with patient age, total nusinersen administrations, age at the first dose, or Children's of Philadelphia Infant Test of Neuromuscular Disorders scores.

Conclusion: Disease-modifying therapy provides significant improvements in overall survival and motor function in spinal muscular atrophy type 1. However, progressive spine deformity and hip subluxation still remain significant problems in the majority of cases which would potentially need to be addressed.

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来源期刊
Journal of Childrens Orthopaedics
Journal of Childrens Orthopaedics Medicine-Orthopedics and Sports Medicine
CiteScore
2.70
自引率
14.30%
发文量
61
审稿时长
23 weeks
期刊介绍: Aims & Scope The Journal of Children’s Orthopaedics is the official journal of the European Paediatric Orthopaedic Society (EPOS) and is published by The British Editorial Society of Bone & Joint Surgery. It provides a forum for the advancement of the knowledge and education in paediatric orthopaedics and traumatology across geographical borders. It advocates an increased worldwide involvement in preventing and treating musculoskeletal diseases in children and adolescents. The journal publishes high quality, peer-reviewed articles that focus on clinical practice, diagnosis and treatment of disorders unique to paediatric orthopaedics, as well as on basic and applied research. It aims to help physicians stay abreast of the latest and ever-changing developments in the field of paediatric orthopaedics and traumatology. The journal welcomes original contributions submitted exclusively for review to the journal. This continuously published online journal is fully open access and will publish one print issue each year to coincide with the EPOS Annual Congress, featuring the meeting’s abstracts.
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