Wierzbicka Aleksandra, Wichniak Adam, Czasak Krystyna, Musińska Iwona, Jakubczyk Tomasz, Sek Anna, Jernajczyk Wojciech
Ośrodek Medycyny Snu, Zakład Neurofizjologii Klinicznej, Instytut Psychiatrii i Neurologii, Warszawa.
Przegl Lek. 2010;67(9):726-8.
Narcolepsy is a chronic hypersomnia of central origin, linked with dysfunction of hypocretin-containing neurons, localized in the lateral hypothalamus. Main symptoms of narcolepsy include excessive daytime sleepiness, cataplexy, hypnagogic hallucinations and sleep paralysis. Establishing the proper diagnosis is very important, because of the negative impact of narcolepsy on patients' functioning in social-life and the possibility of improvement of quality of life with adequate treatment.
Present review describes clinical characteristics of narcolepsy, usefulness of neurophysiological tests in differential diagnosis of narcolepsy and assessing the efficacy of the treatment, as well as the application of novel biological methods in diagnosis of narcolepsy.
According to diagnostic criteria of ICSD-2 the diagnosis of narcolepsy is based on the clinical features and diagnostic examinations and tests. Among them neurophysiological procedures, such as polysomnography (PSG) and Multiple Sleep Latency Test (MSLT) are still recommended as most useful in differential diagnosis of narcolepsy and other hypersomnias. In recent decades novel biochemical and genetic tools have been developed as diagnostic measures in narcolepsy, including the levels of hypocretin in cerebral spinal fluid and HLA DQB1*0602 typing. These both biological markers are strongly associated with the occurrence of cataplexy, therefore do not present considerable diagnostic value in narcolepsy without cataplexy.
Neurophysiological procedures (MSLT) and biological markers are necessary in the diagnosis of narcolepsy with cataplexy and hypersomnia without cataplexy. Neurophysiological procedures are useful in monitoring of the treatment of hypersomnia also.
发作性睡病是一种中枢性起源的慢性睡眠过多症，与位于下丘脑外侧的含下丘脑泌素神经元功能障碍有关。发作性睡病的主要症状包括日间过度嗜睡、猝倒、入睡前幻觉和睡眠麻痹。由于发作性睡病对患者社交生活功能有负面影响，且适当治疗有可能改善生活质量，因此做出正确诊断非常重要。
本综述描述了发作性睡病的临床特征、神经生理学检查在发作性睡病鉴别诊断及评估治疗效果中的作用，以及新型生物学方法在发作性睡病诊断中的应用。
根据国际睡眠障碍分类第二版（ICSD - 2）的诊断标准，发作性睡病的诊断基于临床特征以及诊断性检查和测试。其中，神经生理学检查，如多导睡眠图（PSG）和多次睡眠潜伏期试验（MSLT），在发作性睡病与其他睡眠过多症的鉴别诊断中仍被认为是最有用的。近几十年来，已开发出新型生化和基因检测手段作为发作性睡病的诊断措施，包括脑脊液中下丘脑泌素水平和人类白细胞抗原DQB1*0602分型。这两种生物学标志物都与猝倒的发生密切相关，因此在无猝倒的发作性睡病中诊断价值不大。
神经生理学检查（MSLT）和生物学标志物对于伴猝倒的发作性睡病以及无猝倒的睡眠过多症的诊断是必要的。神经生理学检查在监测睡眠过多症的治疗中也很有用。
