Division of Sleep Medicine, Stanford University School of Medicine, 300 Pasteur Drive, Stanford, CA 94305, USA.
Med Clin North Am. 2010 May;94(3):541-55. doi: 10.1016/j.mcna.2010.02.008.
Narcolepsy with cataplexy is a rare but life-long and challenging disorder. Current insight into the pathophysiology of this condition seems to be autoimmune-mediated postnatal cell death of hypocretin neurons occurring by organ-specific autoimmune targeting with HLA-T-cell receptor interactions. The hypocretin system seems to have an influence on multiple organ systems beyond its wake-promoting mechanisms. The recent availability of cerebrospinal fluid hypocretin-1 analysis has led to definitive diagnostic criteria for narcolepsy with cataplexy. Pharmacologic first-line treatments for excessive daytime sleepiness and cataplexy is sodium oxybate, with modafinil for daytime sleepiness, in adults and children. Other investigative agents and treatment modalities hold promise in future directions for narcolepsy.
猝倒性睡眠发作伴嗜睡症是一种罕见但终身存在且具有挑战性的疾病。目前对这种疾病病理生理学的认识似乎是自身免疫介导的下丘脑分泌素神经元的后天性细胞死亡，通过与 HLA-T 细胞受体相互作用的器官特异性自身免疫靶向发生。下丘脑分泌素系统似乎对多个器官系统有影响，而不仅仅是其促醒机制。最近脑脊液下丘脑分泌素-1 分析的可用性导致了猝倒性睡眠发作伴嗜睡症的明确诊断标准。对于白天过度嗜睡和猝倒，药物治疗的一线选择是羟丁酸钠，成人和儿童也可使用莫达非尼治疗白天嗜睡。其他研究性药物和治疗方法在未来的嗜睡症治疗方向上有一定的应用前景。
