Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.
Mol Genet Metab. 2017 Dec;122S:49-54. doi: 10.1016/j.ymgme.2017.08.008. Epub 2017 Aug 25.
The mucopolysaccharidoses (MPS) represent a heterogeneous group of lysosomal storage disorders, each one associated with a deficiency in one of the enzymes involved in glycosaminoglycan degradation. Sleep disorders are a frequent manifestation of all types of MPS. Underlying causes are diverse and comprised of both respiratory and central nervous system (CNS) abnormalities. Sleep disordered breathing such as obstructive sleep apnea and nocturnal hypoventilation can arise in patients with upper airway obstruction and/or with alterations in respiratory mechanics, causing restrictive pulmonary disease. MPS patients with CNS disease can also develop sleep disturbances unrelated to ventilatory impairments, often associated with severe behavioral problems or night-time epileptic seizures. The present review discusses the pathophysiology, evaluation, and management of sleep disorders in MPS based on information from a meeting on the brain in MPS, attended by an international group of experts (April 28-30, 2016, Stockholm, Sweden), and additional literature searches.
黏多糖贮积症（MPS）是一组溶酶体贮积症的异质性疾病，每种疾病都与参与糖胺聚糖降解的一种酶的缺乏有关。睡眠障碍是所有类型 MPS 的常见表现。其潜在病因多种多样，包括呼吸和中枢神经系统（CNS）异常。睡眠呼吸障碍，如阻塞性睡眠呼吸暂停和夜间通气不足，可发生在上气道阻塞和/或呼吸力学改变的患者中，导致限制性肺病。中枢神经系统疾病的 MPS 患者也可能出现与通气障碍无关的睡眠障碍，通常与严重的行为问题或夜间癫痫发作有关。本综述根据在斯德哥尔摩（瑞典）举行的 MPS 脑会议（2016 年 4 月 28 日至 30 日）上的国际专家组的信息以及其他文献检索，讨论了 MPS 患者睡眠障碍的病理生理学、评估和管理。
