脊髓性肌萎缩、睡眠呼吸障碍及疾病修正治疗的效果：一项叙述性综述。

文献信息

中文摘要

背景： 本叙述性综述总结了目前对脊髓性肌萎缩（SMA）患者中睡眠呼吸障碍（SDB）的发病率、患病率及潜在病理机制的认识。此外，它还评估了疾病修正治疗（DMTs）对该患者群体中SDB的影响。
方法： 我们使用Covidence系统综述程序系统评估了原始文献，并采用了改良的系统综述和荟萃分析首选报告项目方法。
结果： SMA患者中SDB的发病率和患病率在诊断后第一年最高，其中相当一部分表现为中枢性和混合性睡眠呼吸暂停。DMTs在改善但未消除SMA患者SDB方面显示出从可变到积极的效果，证据最强烈支持诺西那生。文献检索显示关于利司扑兰的数据匮乏。
结论： 关于SMA中SDB及DMTs影响的现有医学文献大多来自小样本研究、摘要和方法学严谨性各异的研究。为了推进我们对DMTs在SMA中SDB管理和潜在预防效果的理解，严谨、多中心、盲法、大样本的前瞻性队列研究至关重要。此外，应特别关注评估单药治疗与联合治疗在减轻SMA中SDB相关发病率方面的优越性。

英文摘要

BACKGROUND: This narrative review summarizes the current understanding of the incidence, prevalence, and potential underlying pathological mechanisms of sleep-disordered breathing (SDB) in patients with spinal muscular atrophy (SMA). Additionally, it evaluates the effects of disease-modifying therapies (DMTs) on SDB within this patient population.
METHODS: We systematically evaluated the primary literature using the Covidence systematic review program and employed a modified Preferred Reporting Items for Systematic Reviews and Meta-Analyses approach.
RESULTS: The incidence and prevalence of SDB in patients with SMA was greatest during the first year of diagnosis, with a notable percentage presenting as central and mixed sleep apnea. DMTs have demonstrated variable to positive effects on improving but not eliminating SDB in patients with SMA, with evidence most strongly favoring nusinersen. The literature search demonstrated a paucity of data for risdiplam.
CONCLUSIONS: Much of existing medical literature regarding SDB in SMA and the impact of DMTs is derived from studies of small sample sizes, abstracts, and varying methodologic rigor. To advance our understanding of DMTs' effects on the management and potential prevention of SDB in SMA, rigorous, multicenter, blinded prospective cohort studies with large sample sizes are essential. Furthermore, specific attention should be directed toward assessing the superiority of single-agent therapy versus combination therapy in mitigating the morbidity associated with SDB in SMA.