Gillett Emily S, Perez Iris A
Division of Pediatric Pulmonology and Sleep Medicine, Children's Hospital Los Angeles, 4650 Sunset Blvd, Mailstop #83, Los Angeles, CA 90027, USA.
Diseases. 2016 Jul 8;4(3):23. doi: 10.3390/diseases4030023.
Prader-Willi syndrome (PWS) is an imprinted genetic disorder conferred by loss of paternal gene expression from chromosome 15q11.2-q13. Individuals with PWS have impairments in ventilatory control and are predisposed toward sleep disordered breathing due to a combination of characteristic craniofacial features, obesity, hypotonia, and hypothalamic dysfunction. Children with PWS progress from failure to thrive during infancy to hyperphagia and morbid obesity during later childhood and onward. Similarly, the phenotype of sleep disordered breathing in PWS patients also evolves over time from predominantly central sleep apnea in infants to obstructive sleep apnea (OSA) in older children. Behavioral difficulties are common and may make establishing effective therapy with continuous positive airway pressure (CPAP) more challenging when OSA persists after adenotonsillectomy. Excessive daytime sleepiness (EDS) is also common in patients with PWS and may continue after OSA is effectively treated. We describe here the characteristic ventilatory control deficits, sleep disordered breathing, and excessive daytime sleepiness seen in individuals with PWS. We review respiratory issues that may contribute to sudden death events in PWS patients during sleep and wakefulness. We also discuss therapeutic options for treating sleep disordered breathing including adenotonsillectomy, weight loss, and CPAP. Lastly, we discuss the benefits and safety considerations related to growth hormone therapy.
普拉德-威利综合征（PWS）是一种印记基因疾病，由15号染色体q11.2-q13区域父源基因表达缺失所致。患有PWS的个体存在通气控制障碍，由于其具有特征性的颅面特征、肥胖、肌张力减退和下丘脑功能障碍等多种因素，易患睡眠呼吸障碍。患有PWS的儿童从婴儿期的生长发育迟缓发展为儿童后期及以后的食欲亢进和病态肥胖。同样，PWS患者睡眠呼吸障碍的表型也会随时间演变，从婴儿期主要的中枢性睡眠呼吸暂停发展为大龄儿童的阻塞性睡眠呼吸暂停（OSA）。行为问题很常见，当腺样体扁桃体切除术后OSA持续存在时，可能会使采用持续气道正压通气（CPAP）建立有效治疗变得更具挑战性。日间过度嗜睡（EDS）在PWS患者中也很常见，并且在OSA得到有效治疗后可能仍然存在。我们在此描述了PWS患者中所见的特征性通气控制缺陷、睡眠呼吸障碍和日间过度嗜睡。我们回顾了可能导致PWS患者在睡眠和清醒期间猝死事件的呼吸问题。我们还讨论了治疗睡眠呼吸障碍的治疗选择，包括腺样体扁桃体切除术、减肥和CPAP。最后，我们讨论了与生长激素治疗相关的益处和安全考虑因素。
