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睡眠医学中的图像——沃夫勒姆综合征中的睡眠呼吸障碍——一次近乎致命的事件。

Images in sleep medicine sleep-disordered breathing in Wolfram's syndrome - A near-fatal event.

作者信息

Serino Mariana, Amorim Pedro, Pimentel Ana, Viana Paulo, Pereira José Manuel, van Zeller Mafalda

机构信息

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.

出版信息

Sleep Med. 2024 Dec;124:106-109. doi: 10.1016/j.sleep.2024.09.012. Epub 2024 Sep 12.

DOI:10.1016/j.sleep.2024.09.012
PMID:39288580
Abstract

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.

摘要

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。

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引用本文的文献

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Circadian Rhythm and Psychiatric Features in Wolfram Syndrome: Toward Chrono Diagnosis and Chronotherapy.沃夫勒姆综合征的昼夜节律与精神症状：迈向时辰诊断与时辰治疗
Diagnostics (Basel). 2025 Sep 15;15(18):2338. doi: 10.3390/diagnostics15182338.