睡眠呼吸障碍：关键病理生理机制及其临床意义

文献信息

中文摘要

睡眠呼吸障碍（SDB）涵盖一系列以睡眠期间呼吸模式异常为特征的疾病。这些疾病包括阻塞性睡眠呼吸暂停（OSA）、中枢性睡眠呼吸暂停（CSA）、低通气综合征、原发性打鼾和上气道阻力综合征（UARS）。这些疾病破坏正常睡眠结构，导致睡眠碎片化、日间功能受损以及显著的心代谢疾病负担。本综述综合了目前对SDB潜在生理机制的理解，从正常睡眠调节开始，延伸至疾病特异性病理生理学。通过将病理生理机制与其临床意义相结合，本综述为理解疾病异质性和进展提供了全面框架。本综述的目标是为临床医生提供资源，以支持对睡眠呼吸障碍进行更精确的诊断、患者分类和治疗策略。OSA的特征是反复发生上气道塌陷，并可进一步通过新兴的表型和内型加以刻画，这些表型和内型突显了临床表现和多导睡眠图特征的异质性。相比之下，CSA源于呼吸驱动减弱或缺失，并且常与化学反射敏感性增高和通气不稳定相关。肥胖低通气综合征是SDB的一种严重形式，以呼吸力学受损、肺顺应性降低和通气驱动迟钝为标志，部分由瘦素抵抗介导。原发性打鼾和上气道阻力综合征存在于气道阻力和塌陷性逐渐增加的连续谱上，新兴证据提示这些疾病可能并非完全良性。此外，不同诊断之间可能存在重叠，患者可同时符合多种诊断标准。SDB的分类已通过整合临床特征、多导睡眠图参数和病理生理机制而不断演变。

英文摘要

Sleep-disordered breathing (SDB) encompasses a spectrum of conditions characterized by abnormal respiratory patterns during sleep. These disorders include obstructive sleep apnea (OSA), central sleep apnea (CSA), hypoventilation syndromes, primary snoring, and upper airway resistance syndrome (UARS). These disorders disrupt normal sleep architecture, contributing to sleep fragmentation, impaired daytime function, and significant cardiometabolic morbidity. This review synthesizes current understanding of the physiologic mechanisms underlying SDB, beginning with normal sleep regulation and extending to disease-specific pathophysiology. By integrating pathophysiological mechanisms with their clinical implications, this review provides a comprehensive framework for understanding disease heterogeneity and progression. The goal of this review is to provide clinicians with the resources to inform more precise diagnoses, patient classifications, and treatment strategies for sleep-disordered breathing. OSA is characterized by repetitive upper airway collapse, which can be further characterized by emerging phenotypes and endotypes that highlight heterogeneity in the clinical presentation and polysomnographic features. CSA, in contrast, results from diminished or absent respiratory drive and is frequently associated with heightened chemoreflex sensitivity and ventilatory instability. Obesity hypoventilation syndrome represents a severe form of SDB marked by impaired respiratory mechanics, reduced lung compliance, and blunted ventilatory drive, partly mediated by leptin resistance. Primary snoring and Upper Airway Resistance syndrome exist along a continuum of increasing airway resistance and collapsibility, with emerging evidence suggesting these conditions may not be entirely benign. Additionally, there may be overlaps between diagnoses with patients meeting the criteria for multiple. Classification of SDB has evolved through integration of clinical features, polysomnographic parameters, and pathophysiologic mechanisms.