Moreira Gustavo A, Kyosen Sandra O, Patti Camilla L, Martins Ana Maria, Tufik Sergio
Instituto do Sono, Rua Marselhesa, 500, 14º andar, 04020-060, São Paulo, Brazil,
Sleep Breath. 2014 Dec;18(4):791-7. doi: 10.1007/s11325-014-0944-6. Epub 2014 Apr 5.
Mucopolysaccharidosis (MPS) encompasses a group of rare lysosomal storage disorders that are associated with the accumulation of glycosaminoglycans in organs and tissues. Respiratory disorders occur in all MPS types. In these patients, the prevalence of obstructive sleep apnea syndrome (OSAS), which may confer additional morbidity, remains overlooked, and the results of the few existing studies are controversial. The present study aimed to characterize the prevalence of OSAS in patients with MPS types I, II, and VI in a reference center.
Forty-five patients with MPS (I, n=17; II, n=16; and VI; n=12) in the Centro de Referência em Erros Inatos do Metabolismo, who underwent full-night polysomnography, were enrolled in a retrospective study. Demographic data and clinical history were collected from medical records of the first medical consultation.
The prevalence of OSAS in patients with MPS was 69.8%. MPS type I patients seemed to be more susceptible to OSA-induced hypoxemia, as indicated by reduced mean SpO2 levels during both NREM and rapid eye movement sleep as well as during SpO2 nadir.
Patients with MPS displayed a high prevalence of OSAS, often with moderate to high severity. Together, our results reinforce the need for OSAS screening in all patients with MPS.
黏多糖贮积症（MPS）是一组罕见的溶酶体贮积症，与糖胺聚糖在器官和组织中的蓄积有关。所有类型的MPS都会出现呼吸系统疾病。在这些患者中，可能导致额外发病的阻塞性睡眠呼吸暂停综合征（OSAS）的患病率仍然被忽视，并且现有少数研究的结果存在争议。本研究旨在确定一家参考中心中I型、II型和VI型MPS患者的OSAS患病率。
对代谢先天性疾病参考中心的45例MPS患者（I型，n = 17；II型，n = 16；VI型，n = 12）进行了回顾性研究，这些患者均接受了整夜多导睡眠图检查。从首次就诊的病历中收集人口统计学数据和临床病史。
MPS患者中OSAS的患病率为69.8%。I型MPS患者似乎更容易受到OSA引起的低氧血症影响，这表现为在非快速眼动睡眠和快速眼动睡眠期间以及SpO2最低点时平均SpO2水平降低。
MPS患者中OSAS的患病率很高，且通常为中度至重度。总之，我们的研究结果进一步表明所有MPS患者都需要进行OSAS筛查。
