Serino Mariana, Amorim Pedro, Pimentel Ana, Viana Paulo, Pereira José Manuel, van Zeller Mafalda
Pulmonology Department, Hospital de Braga, Portugal.
Pulmonology Department, Centro Hospitalar Universitário São João, Porto, Portugal; Sleep and Non-Invasive Ventilation Unit, Centro Hospitalar Universitário São João, Porto, Portugal.
Sleep Med. 2024 Dec;124:106-109. doi: 10.1016/j.sleep.2024.09.012. Epub 2024 Sep 12.
Wolfram syndrome (WS) is a rare autosomal-recessive genetic disorder. The authors report a case of a patient with WS and undiagnosed/untreated obstructive sleep apnea (OSA) associated with prolonged periods of apnea and hypopnea and nocturnal hypoxemia, which may have predisposed him to the development of a near-fatal event during sleep. Addressing sleep-disordered breathing in patients with WS could improve their quality of life and potentially their longevity.
沃夫勒姆综合征(WS)是一种罕见的常染色体隐性遗传病。作者报告了一例患有WS且未诊断/未治疗的阻塞性睡眠呼吸暂停(OSA)患者,该患者伴有长时间的呼吸暂停、低通气和夜间低氧血症,这可能使他在睡眠期间易发生近乎致命的事件。解决WS患者的睡眠呼吸障碍问题可以改善他们的生活质量,并有可能延长他们的寿命。