接受诺西那生或利司扑兰治疗的2型和3型脊髓性肌萎缩症儿童睡眠中的呼吸
Respiration during sleep in children with spinal muscular atrophy type 2 and 3, treated with nusinersen or risdiplam.
文献信息
| PMID | 42710465 |
|---|---|
| 原文 | 在 PubMed 查看原文 ↗ |
| 发表日期 | 2026 |
| 作者 | Kristján Dereksson |
| 作者单位 | Pediatrics, Clinical Sciences, Lund University, Lund, Sweden; Pediatrics, Skåne University Hospital, Lund, Sweden. Electronic address: kristjd@gmail.com. |
| 期刊 | Sleep medicine |
| SCI 分区 | Q1 |
| IF | 4.5 |
| 研究类型 | 临床研究 · 临床 |
| 所属专科 | 鼻科 |
中文摘要
脊髓性肌萎缩症（SMA）与儿童睡眠呼吸障碍（SDB）和睡眠低通气相关。在该组患者中，肋间肌无力而膈肌力量保留，导致睡眠期间出现胸腹不同步（TAA）。我们的目的是研究疾病修正治疗（DMT）能否在四年期间稳定或改善2型或3型SMA儿童的睡眠相关呼吸。我们随访了34名2型或3型SMA儿童和青少年，他们在2017年至2023年间开始接受诺西那生或利司扑兰中的一种DMT。在治疗开始时进行呼吸描记，并重复进行4年。测量呼吸结局，包括TAA患病率，表示为胸部和腹部之间相位角>40°的总睡眠时间（TST）百分比。中位随访时间为3.6年。整个研究期间无创通气的使用没有变化。在2型SMA中，AHI下降了5.1 [95%CI -7.6至-2.6]，阻塞性AHI和氧减饱和度指数也显示类似下降，而最低SpO2增加了4.2% [0.2至8.2]。在3型SMA中，上述因素未见变化，但TAA患病率从基线的34.5% TST下降了14.1% [-25.3至-2.9]。TAA异常（定义为>10% TST）的受试者比例从86.7%降至40.0%。在研究期间，DMT与2型和3型SMA中睡眠相关呼吸的稳定或改善相关。这包括2型中SDB减少和3型中TAA改善，没有呼吸功能恶化的证据。
英文摘要
Spinal muscular atrophy (SMA) is associated with sleep-disordered breathing (SDB) and sleep-hypoventilation in children. Weakened intercostal muscles and preserved diaphragm strength cause thoraco-abdominal asynchrony (TAA) during sleep in this group. Our aim was to study if disease-modifying treatment (DMT) could stabilise or improve sleep-related respiration in children with SMA type 2 or 3 over a four-year period. We followed 34 children and adolescents with SMA type 2 or 3 who initiated either of the DMTs nusinersen or risdiplam between 2017 and 2023. Respiratory polygraphy was performed at treatment start and repeatedly for 4 years. Respiratory outcomes were measured, including TAA prevalence, expressed as the percentage of total sleep time (TST) with a phase angle >40° between thorax and abdomen. Median follow-up was 3.6 years. Use of non-invasive ventilation was unchanged throughout the study. In SMA type 2, AHI decreased by 5.1 [95%CI -7.6 to -2.6] and the obstructive-AHI and oxygen desaturation index showed a similar decrease, while minimal-SpO2 increased by 4.2% [0.2 to 8.2]. In SMA type 3 no change was seen in the above factors, but TAA prevalence decreased by 14.1% [-25.3 to -2.9] from the baseline value of 34.5% of TST. The proportion of subjects with abnormal TAA, defined as >10% TST, fell from 86.7% to 40.0%. Over the study period, DMTs were associated with stabilization or improvement of sleep-related respiration in both SMA type 2 and 3. This included reduced SDB in type 2 and improved TAA in type 3, with no evidence of respiratory decline.