A study of the diagnostic utility of HLA typing, CSF hypocretin-1 measurements, and MSLT testing for the diagnosis of narcolepsy in 163 Korean patients with unexplained excessive daytime sleepiness

A study of the diagnostic utility of HLA typing, CSF hypocretin-1 measurements, and MSLT testing for the diagnosis of narcolepsy in 163 Korean patients with unexplained excessive daytime sleepiness
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DOI:
10.1093/sleep/29.11.1429
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发表时间:
2006-11-01
期刊:
影响因子:
5.6
通讯作者:
Mignot, Emmanuel
Mignot, Emmanuel
中科院分区:
医学2区
文献类型:
--
作者:
Hong, Seung-Chul;Lin, Ling;Mignot, Emmanuel

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研究目的:.研究一组嗜睡症患者的DQB 1 *0602状态和脑脊液(CSF)中下丘脑泌素-1水平,并测试中枢性嗜睡症的国际睡眠障碍分类-2(ICSD-2)标准。设计:回顾性病例系列。在韩国圣文森特医院招募了163名连续的不明原因嗜睡患者和282名对照。诊断的金标准是ICSD-2标准。患者和对照组完成了斯坦福大学睡眠量表,并同意HLA分型。多导睡眠描记术(87%),多次睡眠潜伏期测试(MPEST)(96%),和CSF hypocretin-1测量(53%)进行patients. Measures和结果:大多数患者(80%)可以使用ICSD-2分类。无法分类的33例患者无cataemia(4例CSF下丘脑泌素-1水平较低)。由于睡眠呼吸暂停(呼吸暂停低通气指数5/h,84%)和/或由于MPERS前睡眠时间少于6小时(27%),因此无法纳入这些患者。发作性睡病伴猝倒病例HLA阳性率为92%,且下丘脑泌素-1水平较低。访谈时的紧张症是通过经验证的斯坦福大学睡眠调查问卷中关于紧张症触发因素的问题来预测的。相反,包括对照组在内的所有组中均频繁报告了晕厥样事件。发作性睡病无catabalism的情况下,往往是男性(73%)和生物异质性(36% HLA阳性,40%与低CSF下丘脑泌素-1)。结论:ICSD-2可用于诊断典型cataemia。在这些情况下,中期审查和进一步的评价几乎总是积极的,因此可能不总是需要的。许多没有cataerosis的患者很难分类,因为在存在睡眠呼吸暂停或睡眠减少的情况下难以解释MPEG 1。
Study Objective:. To study DQB1*0602 status and hypocretin-1 levels in the cerebrospinal fluid (CSF) in a cohort of patients with hypersomnolence and to test International Classification of Sleep Disorders-2 (ICSD-2) criteria for hypersomnia of central origin.Design: Retrospective case series.Patients and Setting: One hundred sixty-three consecutive patients with unexplained sleepiness and 282 controls recruited at St. Vincent's Hospital, Korea. The gold standard for diagnosis was ICSD-2 criteria. Patients and controls completed the Stanford Sleep Inventory, and agreed to HLA typing. Polysomnography (87%), Multiple Sleep Latency Test (MSLT) (96%), and CSF hypocretin-1 measurements (53%) were conducted in patients.Measurements and Results: Most patients (80%) could be classified using the ICSD-2. The 33 patients who could not be classified were without cataplexy (4 with low CSF hypocretin-1). These could not be included because of sleep apnea (apnea-hypopnea index 5/h, 84%) and/or because sleep prior to MSLT was less than 6 hours (27%). Narcolepsy with cataplexy cases were 92% HLA positive with low hypocretin-1. Cataplexy at interview was predicted by validated Stanford Sleep Inventory questions regarding cataplexy triggers. In contrast, cataplexy-like events were frequently reported in all groups, including controls. Cases with narcolepsy without cataplexy were frequently men (73%) and heterogeneous biologically (36% HLA positive, 40% with low CSF hypocretin-1). None of the controls had low CSF hypocretin-1, whereas 13% were HLA positive.Conclusion: The ICSD-2 was easily applicable in cases with typical cataplexy. In these cases, the MSLT and further evaluations were almost always positive and may thus not always be needed. Many patients without cataplexy were difficult to classify because of difficulties in interpreting the MSLT in the presence of sleep apnea or reduced sleep.