Narcolepsy and Other Central Hypersomnias.
Narcolepsy and Other Central Hypersomnias.
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DOI：
10.1212/con.0000000000000492
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发表时间：
2017-08-01
期刊：
影响因子：
--
通讯作者：
Barateau, Lucie
中科院分区：
文献类型：
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作者：
Dauvilliers, Yves;Barateau, Lucie
综述目的：本文重点介绍《国际睡眠障碍分类》第三版 (ICSD-3) 中定义的 1 型发作性睡病和 2 型发作性睡病、特发性嗜睡症、克莱恩-莱文综合征和其他中枢性嗜睡症的临床表现、病理生理学、诊断、鉴别诊断和治疗。 ICSD-3中，一些嗜睡症的中枢性疾病的名称已更改：伴有猝倒的发作性睡病和不伴有猝倒的发作性睡病已分别更名为发作性睡病1型和发作性睡病2型。目前，脑脊液中低水平的下丘脑分泌素-1/食欲素-A 理论上足以诊断 1 型发作性睡病，因为它是一种高度特异性和敏感的生物标志物。相反，其他中枢性嗜睡症是不太明确的疾病，其表型存在差异，并且迄今为止几乎没有发现可靠的生物标志物。流行病学观察表明，甲型流感 (H1N1) 感染和疫苗接种是 1 型发作性睡病（在 2009 年 H1N1 大流行期间发现）的潜在触发因素，这增加了人们对这种罕见疾病的兴趣，并且在更好地了解导致下丘脑分泌素神经元破坏的过程（高度怀疑是自身免疫性）方面正在取得进展。发作性睡病的治疗主要是对症治疗，通常最初使用莫达非尼或阿莫达非尼或高效兴奋剂，如哌醋甲酯或安非他明。还开发了几种较新的促醒剂和精神兴奋剂，包括羟丁酸钠（在治疗猝倒中发挥作用并作为辅助促醒剂）和pitolisant（一种选择性组胺 H3 受体反向激动剂，目前仅在欧洲可用）。 摘要：虽然中枢性嗜睡症比许多其他睡眠障碍少见，但它是最严重和致残的疾病之一。 在睡眠医学领域，早期识别对于患者（尤其是儿童）至关重要，可以最大限度地提高他们的生活质量和日常生活活动的功能。
PURPOSE OF REVIEW: This article focuses on the clinical presentation, pathophysiology, diagnosis, differential diagnosis, and management of narcolepsy type 1 and narcolepsy type 2, idiopathic hypersomnia, Kleine-Levin syndrome, and other central disorders of hypersomnolence, as defined in the International Classification of Sleep Disorders, Third Edition (ICSD-3).RECENT FINDINGS: In ICSD-3, the names of some central disorders of hypersomnolence have been changed: narcolepsy with cataplexy and narcolepsy without cataplexy have been renamed narcolepsy type 1 and narcolepsy type 2, respectively. A low level of hypocretin-1/orexin-A in the CSF is now theoretically sufficient to diagnose narcolepsy type 1, as it is a highly specific and sensitive biomarker. Conversely, other central hypersomnias are less well-defined disorders with variability in the phenotype, and few reliable biomarkers have been discovered so far. The epidemiologic observation that influenza A (H1N1) infection and vaccination are potential triggering factors of narcolepsy type 1 (discovered during the 2009 H1N1 pandemic) has increased interest in this rare disease, and progress is being made to better understand the process (highly suspected to be autoimmune) responsible for the destruction of hypocretin neurons. Treatment of narcolepsy remains largely symptomatic, usually initially with modafinil or armodafinil or with higher-potency stimulants such as methylphenidate or amphetamines. Several newer wake-promoting agents and psychostimulants have also been developed, including sodium oxybate, which has a role in the treatment of cataplexy and as an adjunctive wake-promoting agent, and pitolisant, a selective histamine H3 receptor inverse agonist that is currently only available in Europe.SUMMARY: Although far less common than many other sleep disorders, central hypersomnias are among the most severe and disabling diseases in the field of sleep medicine, and their early recognition is of major importance for patients, especially children, to maximize their quality of life and functioning in activities of daily living.