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中枢性过度睡眠的生物学标志物研究进展

Research advances in biomarkers for hypersomnias of central origin

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【作者】 和航庭于澎铮闫安白利华冯良枢王赞

【Author】 HE Hangting;YU Pengzheng;YAN An;BAI Lihua;FENG Liangshu;WANG Zan;Department of Neurology,The First Hospital of Jilin University;

【通讯作者】 冯良枢;王赞;

【机构】 吉林大学第一医院神经内科

【摘要】 中枢性过度睡眠指在本该清醒的时间段无法维持清醒与警觉,表现为难以抑制的困倦甚至突发睡眠发作。主要包括Ⅰ型发作性睡病(NT1)、Ⅱ型发作性睡病(NT2)、特发性过度睡眠(IH)和克莱恩-莱文综合征(KLS)等。目前中枢性过度睡眠的临床诊断高度依赖主观病史、思睡量表及电生理评估,传统诊断手段易受混杂因素干扰。脑脊液促食欲素-1水平降低是NT1的诊断金标准,而其余亚型仍缺乏特异性客观实验室指标,导致诊断延迟率高、误诊率高。生物学标志物作为生理病理过程的客观可量化指标,在中枢性过度睡眠的早期筛查、精准分型、纵向监测及靶向治疗研发中具有重要临床价值。本综述从多导睡眠图与日间功能评估、外周血清学、脑脊液、神经影像学、自主神经功能5个维度,系统梳理中枢性过度睡眠相关生物学标志物的研究进展,为构建中枢性过度睡眠精准诊疗体系提供理论框架与循证依据。

【Abstract】 Hypersomnias of central origin are defined as the inability to maintain wakefulness and alertness during the major waking episodes of the day, with the manifestation of irrepressible drowsiness or even unprovoked sleep attacks. This spectrum of disorders mainly includes narcolepsy type 1, narcolepsy type 2, idiopathic hypersomnia, and KleineLevin syndrome. Currently, the clinical diagnosis of hypersomnias of central origin mainly depends on subjective medical history, sleepiness scales, and electrophysiological assessments, and these conventional diagnostic methods are easily affected by confounding factors. A reduction in the level of hypocretin-1 in cerebrospinal fluid(CSF) is the gold standard for the diagnosis of narcolepsy type 1, while there is still a lack of specific and objective laboratory markers for the other subtypes, resulting in the high rates of diagnostic delay and misdiagnosis. As objective and quantifiable indicators for pathophysiological processes, biomarkers have an important clinical value in the early screening, precise phenotyping, and longitudinal monitoring of hypersomnias of central origin, as well as in the development of targeted therapies for this group of sleep disorders. This article systematically reviews the research advances in biomarkers associated with hypersomnias of central origin from the five dimensions of polysomnography and daytime functional assessment, peripheral serology, cerebrospinal fluid, neuroimaging, and autonomic nervous function, in order to provide a theoretical framework and evidencebased support for constructing a precise diagnosis and treatment system for these disorders.

【基金】 脑科学与类脑智能技术国家重大科技专项(2021ZD020-4303)
  • 【文献出处】 中风与神经疾病杂志 ,Journal of Apoplexy and Nervous Diseases , 编辑部邮箱 ,2026年04期
  • 【分类号】R740
  • 【下载频次】8
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