Department of Neurology, Gui de Chauliac Hospital, 80 Avenue Augustin Fliche, 34295 Montpellier, Cedex 5, France.
Department of Neurology, First Faculty of Medicine, Charles University in Prague, Katerinska 30, 1200 Prague, Czech Republic.
Sleep Med Rev. 2016 Oct;29:23-33. doi: 10.1016/j.smrv.2015.08.007. Epub 2015 Sep 3.
Idiopathic hypersomnia continues to evolve from the concept of "sleep drunkenness" introduced by Bedrich Roth in Prague in 1956 and the description of idiopathic hypersomnia with two forms, polysymptomatic and monosymptomatic, by the same Bedrich Roth in 1976. The diagnostic criteria of idiopathic hypersomnia have varied with the successive revisions of the International classifications of sleep disorders, including the recent 3rd edition. No epidemiological studies have been conducted so far. Disease onset occurs most often during adolescence or young adulthood. A familial background is often present but rigorous studies are still lacking. The key manifestation is hypersomnolence. It is often accompanied by sleep of long duration and debilitating sleep inertia. Polysomnography (PSG) followed by a multiple sleep latency test (MSLT) is mandatory, as well as a 24 h PSG or a 2-wk actigraphy in association with a sleep log to ensure a total 24-h sleep time longer than or equal to 66O minutes, when the mean sleep latency on the MSLT is longer than 8 min. Yet, MSLT is neither sensitive nor specific and the polysomnographic diagnostic criteria require continuous readjustment and biologic markers are still lacking. Idiopathic hypersomnia is most often a chronic condition though spontaneous remission may occur. The condition is disabling, sometimes even more so than narcolepsy type 1 or 2. Based on neurochemical, genetic and immunological analyses as well as on exploration of the homeostatic and circadian processes of sleep, various pathophysiological hypotheses have been proposed. Differential diagnosis involves a number of diseases and it is not yet clear whether idiopathic hypersomnia and narcolepsy type 2 are not the same condition. Until now, the treatment of idiopathic hypersomnia has mirrored that of the sleepiness of narcolepsy type 1 or 2. The first randomized, double-blind, placebo-controlled trials of modafinil have just been published, as well as a double-blind, placebo-controlled trial of clarithromycine, a negative allosteric modulator of the γ-aminobutyric acid-A receptor.
特发性嗜睡症的概念源于 Bedrich Roth 1956 年在布拉格提出的“睡眠醉酒”，以及 Bedrich Roth 1976 年对特发性嗜睡症的两种形式（多症状性和单症状性）的描述。特发性嗜睡症的诊断标准随着国际睡眠障碍分类的连续修订而有所不同，包括最近的第 3 版。到目前为止，还没有进行过流行病学研究。疾病发作通常发生在青少年或成年早期。常有家族背景，但严格的研究仍然缺乏。主要表现为嗜睡。常伴有睡眠时间长和严重的睡眠惯性。多导睡眠图（PSG）后进行多次小睡潜伏期试验（MSLT）是强制性的，以及 24 小时 PSG 或 2 周活动记录仪与睡眠日志相结合，以确保总睡眠时间 24 小时大于或等于 660 分钟，当 MSLT 的平均睡眠潜伏期大于 8 分钟时。然而，MSLT 既不敏感也不特异，且多导睡眠图诊断标准需要不断调整，生物标志物仍然缺乏。特发性嗜睡症通常是一种慢性疾病，尽管可能会自发缓解。这种情况会使人丧失能力，有时甚至比 1 型或 2 型发作性睡病更严重。基于神经化学、遗传和免疫分析以及对睡眠的稳态和昼夜节律过程的探索，提出了各种病理生理学假说。鉴别诊断涉及许多疾病，目前还不清楚特发性嗜睡症和 2 型发作性睡病是否为同一种疾病。到目前为止，特发性嗜睡症的治疗方法反映了 1 型或 2 型发作性睡病的嗜睡治疗方法。刚刚发表了莫达非尼的第一项随机、双盲、安慰剂对照试验，以及一项氯红霉素的双盲、安慰剂对照试验，氯红霉素是γ-氨基丁酸-A 受体的负变构调节剂。
