Attali Valérie, Straus Christian, Pottier Michel, Buzare Marie-Annick, Morélot-Panzini Capucine, Arnulf Isabelle, Similowski Thomas
Sorbonne Universités, UPMC Université Paris 06, INSERM, UMRS1158 "Neurophysiologie Respiratoire Expérimentale et Clinique", Paris, France.
Service des Pathologies du Sommeil, Hôpital Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75651, Paris, Cedex 13, France.
Orphanet J Rare Dis. 2017 Jan 23;12(1):18. doi: 10.1186/s13023-017-0569-5.
The purpose of this study was to describe the sleep structure (especially slow wave sleep) in adults with congenital central hypoventilation syndrome (CCHS), a rare genetic disease due to mutations in the PHOX2B gene. Fourteen patients aged 23 (19.0; 24.8) years old (median [1-3rd quartiles]) with CCHS underwent a sleep interview and night-time attended polysomnography with their ventilatory support. Their sleep variables were compared to those collected in 15 healthy control subjects matched for age, sex and body mass index.
The latency to N3 sleep was shorter in patients (26.3 min [24.0; 30.1]) than in controls (49.5 min [34.3; 66.9]; P = 0.005), and sleep onset latency tended to be shorter in patients (14.0 min [7.0; 20.5]) than in controls (33.0 min [18.0; 49.0]; P = 0.052). Total sleep time, sleep stage percentages, sleep fragmentation as well as respiratory and movement index were within normal ranges and not different between groups.
Normal sleep in adult patients with CCHS and adequate ventilator support indicates that the PHOX2 gene mutations do not affect brain sleep networks. Consequently, any complaint of disrupted sleep should prompt clinicians to look for the usual causes of sleep disorders, primarily inadequate mechanical ventilation. Shorter N3 latency may indicate a higher need for slow wave sleep, to compensate for the abnormal respiratory-related cortical activity during awake quiet breathing observed in patients with CCH.
本研究旨在描述先天性中枢性低通气综合征（CCHS）成年患者的睡眠结构（尤其是慢波睡眠），CCHS是一种由PHOX2B基因突变引起的罕见遗传病。14名年龄为23（19.0；24.8）岁（中位数[第1-3四分位数]）的CCHS患者接受了睡眠访谈，并在接受通气支持的情况下进行了夜间多导睡眠监测。将他们的睡眠变量与15名年龄、性别和体重指数相匹配的健康对照者收集的变量进行比较。
患者从清醒到N3睡眠的潜伏期（26.3分钟[24.0；30.1]）短于对照组（49.5分钟[34.3；66.9]；P = 0.005），患者的入睡潜伏期（14.0分钟[7.0；20.5]）也倾向于短于对照组（33.0分钟[18.0；49.0]；P = 0.052）。总睡眠时间、睡眠阶段百分比、睡眠片段化以及呼吸和运动指数均在正常范围内，且两组之间无差异。
成年CCHS患者在有足够通气支持下的正常睡眠表明，PHOX2基因突变不影响大脑睡眠网络。因此，任何睡眠中断的主诉都应促使临床医生寻找睡眠障碍的常见原因，主要是机械通气不足。较短的N3潜伏期可能表明对慢波睡眠的需求更高，以补偿CCH患者在清醒安静呼吸期间观察到的与呼吸相关的异常皮质活动。
