Sleep and Circadian Medicine Laboratory, Department of Physiology, and.
School of Psychological Sciences, Turner Institute for Brain and Mental Health, Monash University, Melbourne, Victoria, Australia.
Am J Respir Crit Care Med. 2019 Sep 15;200(6):691-703. doi: 10.1164/rccm.201901-0014TR.
Traditionally, the presence and severity of obstructive sleep apnea (OSA) have been defined by the apnea-hypopnea index (AHI). Continuous positive airway pressure is generally first-line therapy despite low adherence, because it reliably reduces the AHI when used, and the response to other therapies is variable. However, there is growing appreciation that the underlying etiology (i.e., endotype) and clinical manifestation (i.e., phenotype) of OSA in an individual are not well described by the AHI. We define and review the important progress made in understanding and measuring physiological mechanisms (or endotypes) that help define subtypes of OSA and identify the potential use of genetics to further refine disease classification. This more detailed understanding of OSA pathogenesis should influence clinical treatment decisions as well as help inform research priorities and clinical study design. In short, treatments could be individualized on the basis of the underlying cause of OSA; patients could better understand which symptoms and outcomes will respond to OSA treatment and by how much; and researchers could select populations most likely to benefit from specific treatment approaches for OSA.
传统上,阻塞性睡眠呼吸暂停 (OSA) 的存在和严重程度是通过呼吸暂停低通气指数 (AHI) 来定义的。尽管依从性低,持续气道正压通气 (CPAP) 通常是一线治疗方法,因为它在使用时能可靠地降低 AHI,而其他治疗方法的反应则各不相同。然而,人们越来越认识到,AHI 并不能很好地描述个体中 OSA 的潜在病因(即表型)和临床表现(即表型)。我们定义并回顾了在理解和测量有助于定义 OSA 亚型的生理机制(或表型)方面所取得的重要进展,并确定了遗传学在进一步细化疾病分类方面的潜在用途。对 OSA 发病机制的这种更详细的了解应该会影响临床治疗决策,并有助于为研究重点和临床研究设计提供信息。简而言之,治疗可以根据 OSA 的根本原因进行个体化;患者可以更好地了解哪些症状和结果将对 OSA 治疗有反应,以及反应程度如何;研究人员可以选择最有可能从特定 OSA 治疗方法中受益的人群。