Narcolepsy
Narcolepsy
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DOI：
10.1038/nrdp.2016.100
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发表时间：
2017-02-09
影响因子：
81.5
通讯作者：
Overeem, Sebastiaan
中科院分区：
文献类型：
--
作者：
Kornum, Birgitte R.;Knudsen, Stine;Overeem, Sebastiaan
发作性睡病是一种慢性睡眠障碍，通常发生在青春期，其特征是白天过度嗜睡，这可能对患者造成严重后果。发作性睡病患者面临的问题包括与这种疾病相关的社会耻辱、难以获得教育和保住工作、生活质量下降以及社会经济后果。已经描述了两种发作性睡病亚型（1型发作性睡病和2型发作性睡病），这两种亚型的临床特征相似，除了发作性睡病只发生在1型发作性睡病患者中。1型发作性睡病的发病机制被假设为自身免疫破坏下丘脑分泌下丘脑分泌激素的神经元；这一假设得到了与疾病相关的免疫相关遗传和环境因素的支持。然而，目前还没有支持自身免疫假说的直接证据。发作性睡病的诊断包括临床、电生理和生物学评估，但需要更简单、更快速的程序。有几种药物可用于发作性睡病的对症治疗，所有这些药物都具有相当好的疗效和安全性。然而，迄今为止，没有任何治疗方法可以阻碍或减缓疾病的发展。需要改进诊断工具和增加对1型发作性睡病发病机制的了解，并可能导致治疗性甚至预防性干预。
Narcolepsy is a chronic sleep disorder that has a typical onset in adolescence and is characterized by excessive daytime sleepiness, which can have severe consequences for the patient. Problems faced by patients with narcolepsy include social stigma associated with this disease, difficulties in obtaining an education and keeping a job, a reduced quality of life and socioeconomic consequences. Two subtypes of narcolepsy have been described (narcolepsy type 1 and narcolepsy type 2), both of which have similar clinical profiles, except for the presence of cataplexy, which occurs only in patients with narcolepsy type 1. The pathogenesis of narcolepsy type 1 is hypothesized to be the autoimmune destruction of the hypocretin-producing neurons in the hypothalamus; this hypothesis is supported by immune-related genetic and environmental factors associated with the disease. However, direct evidence in support of the autoimmune hypothesis is currently unavailable. Diagnosis of narcolepsy encompasses clinical, electrophysiological and biological evaluations, but simpler and faster procedures are needed. Several medications are available for the symptomatic treatment of narcolepsy, all of which have quite good efficacy and safety profiles. However, to date, no treatment hinders or slows disease development. Improved diagnostic tools and increased understanding of the pathogenesis of narcolepsy type 1 are needed and might lead to therapeutic or even preventative interventions.