Dyken Mark E, Yamada Thoru
Department of Neurology, Sleep Disorders Center, University of Iowa Roy J. and Lucille A. Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USA.
Prim Care. 2005 Jun;32(2):389-413. doi: 10.1016/j.pop.2005.02.012.
Recent studies provide valid criteria that help differentiate idiopathic narcolepsy from other disorders of excessive daytime somnolence [3]. Research to date suggests that idiopathic narcolepsy might properly be considered a disorder of excessive sleepiness with dysfunctional REM-sleep mechanisms, clinically evidenced as cataplexy and electrophysiologically recognized as SOREMPs. Given these criteria, a diagnosis can generally be made using a combination of history, PSG, and MSLT. Traditionally, the medical treatment of idiopathic narcolepsy has centered on a two-drug regimen (stimulants for sleepiness and TCAs for cataplexy and auxiliary symptoms). Some newer medications are proving efficacious for sleepiness with minimal adverse effects, whereas others may provide a single-drug regimen that simultaneously addresses sleepiness and cataplexy [18]. New research has allowed some experts to hypothesize that idiopathic narcolepsy may be the result of a genetic predisposition to autoimmune disease [176]. It is possible that aberrant genetic coding of elements in the hypocretin/orexin systems allows a sensitivity to inducible and possibly virally mediated changes, which leave cells in the lateral hypothalamus susceptible to autoimmune attack [96]. As such, genetic screening of high-risk individuals might eventually rationalize the prophylactic use of immunosuppressants in some instances. In the future, for atypical cases(poorly responsive to therapy), genetic, CSF, and brain imaging studies, and possibly even neuronal transplantation may prove beneficial in the assessment and treatment of idiopathic narcolepsy.
最近的研究提供了有效的标准，有助于将特发性发作性睡病与其他白天过度嗜睡的疾病区分开来[3]。迄今为止的研究表明，特发性发作性睡病可能恰当地被视为一种伴有快速眼动睡眠机制功能失调的过度嗜睡疾病，临床证据为猝倒，电生理上表现为睡眠始发快速眼动期（SOREMPs）。根据这些标准，通常可以结合病史、多导睡眠图（PSG）和多次睡眠潜伏期试验（MSLT）做出诊断。传统上，特发性发作性睡病的药物治疗主要集中在两种药物联合使用（使用兴奋剂治疗嗜睡，三环类抗抑郁药治疗猝倒及辅助症状）。一些新型药物已被证明对嗜睡有效且副作用最小，而其他一些药物可能提供一种单一药物疗法，同时解决嗜睡和猝倒问题[18]。新的研究使一些专家推测，特发性发作性睡病可能是自身免疫性疾病遗传易感性的结果[176]。有可能下丘脑泌素/食欲素系统中元素的异常基因编码使得机体对诱导性变化（可能是病毒介导的变化）敏感，从而使下丘脑外侧的细胞易受自身免疫攻击[96]。因此，对高危个体进行基因筛查最终可能在某些情况下使免疫抑制剂的预防性使用变得合理。在未来，对于非典型病例（对治疗反应不佳），基因、脑脊液和脑成像研究，甚至神经元移植可能在特发性发作性睡病的评估和治疗中被证明是有益的。
