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特发性嗜睡症的精准医学

Precision Medicine for Idiopathic Hypersomnia.

作者信息

Arnulf Isabelle, Leu-Semenescu Smaranda, Dodet Pauline

机构信息

National Reference Center for Rare Hypersomnias, Pitie-Salpetriere University Hospital, APHP, and Sorbonne University, 47-83 Boulevard de l'Hôpital, Paris 75013, France.

National Reference Center for Rare Hypersomnias, Pitie-Salpetriere University Hospital, APHP, and Sorbonne University, 47-83 Boulevard de l'Hôpital, Paris 75013, France.

出版信息

Sleep Med Clin. 2019 Sep;14(3):333-350. doi: 10.1016/j.jsmc.2019.05.007.

Abstract

Idiopathic hypersomnia (IH) is characterized by excessive daytime sleepiness despite normal or prolonged sleep. IH is distinguished from narcolepsy by the female predominance, severe morning inertia, continuous drowsiness (rather than sleep attacks), unrefreshing naps, absence of cataplexy, sleep onset in REM periods, and hypocretin deficiency. In IH, the multiple sleep latency test demonstrates low sensitivity, specificity, and reproducibility, compared with prolonged sleep monitoring. In some IH cases, an endogenous hypnotic peptide stimulating GABA receptors during wakefulness is suspected, which are improved by anti-GABA drugs. The benefits of modafinil, sodium oxybate, mazindol, and pitolisant were found in mostly retrospective studies.

摘要

特发性嗜睡症(IH)的特征是尽管睡眠正常或延长,但白天仍过度嗜睡。IH与发作性睡病的区别在于女性居多、严重的晨起惯性、持续嗜睡(而非睡眠发作)、小睡后无恢复感、无猝倒、快速眼动期睡眠起始以及下丘脑分泌素缺乏。与延长睡眠监测相比,在IH中多次睡眠潜伏期测试显示出低敏感性、特异性和可重复性。在一些IH病例中,怀疑存在一种在清醒时刺激GABA受体的内源性催眠肽,抗GABA药物可改善这种情况。莫达非尼、羟丁酸钠、马吲哚和匹莫林的疗效大多在回顾性研究中被发现。

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