Livingston F R, Arens R, Bailey S L, Keens T G, Ward S L
Division of Neonatology and Pediatric Pulmonology, Childrens Hospital of Los Angeles, University of Southern California School of Medicine 90027, USA.
Chest. 1995 Dec;108(6):1627-31. doi: 10.1378/chest.108.6.1627.
Prader-Willi syndrome (PWS) is characterized by a number of abnormalities of hypothalamic function, such as hyperphagia, short stature, temperature instability, hypogonadotropic hypogonadism, and neurosecretory growth hormone deficiency. Patients with PWS are reported to have sleep-disordered breathing and have blunted hypercapnic ventilatory responses secondary to abnormal peripheral chemoreceptor function. Thus, we hypothesized that hypercapnic arousal responses would be abnormal in PWS.
Hypercapnic arousal responses were tested in ten nonobese children and adults with PWS, aged 17.7 +/- 2.5 (SEM) years, 70% female, and nine control subjects, aged 14.2 +/- 2.6 years, 67% female. Hypercapnic challenges were performed during stage 3/4 non-rapid eye movement sleep.
The PWS subjects had a significantly higher arousal threshold to hypercapnia compared with the controls (53 +/- 1.0 vs 46 +/- 1.7 mm Hg; p < 0.01). The PWS subjects had significantly higher baseline end-tidal CO2 levels (42 +/- 0.8 vs 38 +/- 1.1 mm Hg; p < 0.01) and more central apneas greater than 15 s/h of sleep (1.5 +/- 0.3 vs 0.1 +/- 0.1; p < 0.01).
Elevated hypercapnic arousal thresholds during sleep are found in PWS subjects; these may be a manifestation of abnormal peripheral chemoreceptor function and may further contribute to sleep-disordered breathing in PWS patients.
普拉德-威利综合征（PWS）的特征是下丘脑功能存在多种异常，如食欲亢进、身材矮小、体温不稳定、促性腺激素缺乏性性腺功能减退以及神经分泌性生长激素缺乏。据报道，PWS患者存在睡眠呼吸障碍，且由于外周化学感受器功能异常，对高碳酸血症的通气反应减弱。因此，我们推测PWS患者的高碳酸血症唤醒反应会异常。
对10名非肥胖的PWS儿童和成人进行了高碳酸血症唤醒反应测试，他们的年龄为17.7±2.5（SEM）岁，70%为女性；同时测试了9名对照受试者，年龄为14.2±2.6岁，67%为女性。在非快速眼动睡眠3/4期进行高碳酸血症激发试验。
与对照组相比，PWS受试者对高碳酸血症的唤醒阈值显著更高（53±1.0 vs 46±1.7 mmHg；p<0.01）。PWS受试者的基线呼气末二氧化碳水平显著更高（42±0.8 vs 38±1.1 mmHg；p<0.01），且每小时睡眠中大于15秒的中枢性呼吸暂停更多（1.5±0.3 vs 0.1±0.1；p<0.01）。
PWS受试者在睡眠期间的高碳酸血症唤醒阈值升高；这些可能是外周化学感受器功能异常的表现，可能进一步导致PWS患者的睡眠呼吸障碍。
