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发作性睡病-猝倒综合征的诊断与治疗进展

[Advances in the diagnosis and treatment of narcolepsy-cataplexy syndrome].

作者信息

de Vicente Alvarez-Manzaneda E E

机构信息

Unidad del Sueño, Servicio de Neurofisiología Clínica, Hospital Universitario Miguel Servet, Zaragoza, España.

出版信息

Rev Neurol. 2008;46(9):550-6.

Abstract

INTRODUCTION

Narcolepsy is a disabling sleep disorder that is characterised by excessive daytime sleepiness and abnormal manifestations in REM (rapid eye movement) sleep that include, among other symptoms, cataplexy (the sudden loss of muscle tone triggered by strong emotions). Studies on the prevalence of narcolepsy-cataplexy in Europe and the United States have yielded a figure of 0.013-0.067% in the general population. Although its prevalence is low, it is probably under-diagnosed for a number of different reasons, the most important perhaps being the difficulties involved in its diagnosis.

DEVELOPMENT

Because its diagnosis is essentially clinical, complementary tests can often be very helpful. Today, it is one of the most extensively studied sleep disorders at the molecular level. Human narcolepsy is associated with diminished hypocretin/orexin concentrations, unlike the case of canine narcolepsy, where mutations in the Hcrt receptor have been found. The treatment of narcolepsy must be tailored to meet the needs of each patient after an individual analysis of his or her symptoms. Daytime sleepiness can be controlled by drugs that stimulate the central nervous system, the most common being methylphenidate and modafinil. Cataplexy is usually treated with tricyclic antidepressants and selective serotonin reuptake inhibitors. The appearance of new drugs like sodium oxybate sheds a ray of light on the dark horizon of patients with narcolepsy-cataplexy syndrome.

CONCLUSION

Early identification of excessive daytime sleepiness by primary care physicians and specialists is essential for a better management and follow-up of these patients.

摘要

引言

发作性睡病是一种使人衰弱的睡眠障碍,其特征为日间过度嗜睡以及快速眼动(REM)睡眠期的异常表现,其中包括猝倒(由强烈情绪引发的突然肌肉张力丧失)等症状。对欧美发作性睡病 - 猝倒症患病率的研究表明,普通人群中的患病率为0.013 - 0.067%。尽管其患病率较低,但由于多种不同原因,它可能未得到充分诊断,其中最重要的原因或许是其诊断存在困难。

发展

由于其诊断主要基于临床,辅助检查通常会非常有帮助。如今,它是在分子水平上研究最为广泛的睡眠障碍之一。人类发作性睡病与下丘脑分泌素/食欲素浓度降低有关,这与犬类发作性睡病不同,后者已发现Hcrt受体存在突变。发作性睡病的治疗必须在对每个患者的症状进行个体分析后,根据其需求进行调整。日间嗜睡可通过刺激中枢神经系统的药物来控制,最常用的是哌甲酯和莫达非尼。猝倒通常用三环类抗抑郁药和选择性5-羟色胺再摄取抑制剂进行治疗。像羟丁酸钠这样的新药的出现,为发作性睡病 - 猝倒症综合征患者的黑暗前景带来了一线曙光。

结论

初级保健医生和专科医生尽早识别日间过度嗜睡,对于更好地管理和随访这些患者至关重要。

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