Department of Psychiatry, The Chinese University of Hong Kong, Shatin, Hong Kong.
Sleep Med. 2011 Dec;12(10):947-51. doi: 10.1016/j.sleep.2011.05.007. Epub 2011 Oct 28.
To determine the familial aggregation of narcolepsy from perspectives of clinical symptomatology, polysomnographic data, and human leukocyte antigen (HLA) typing.
This was a Family study at the University-affiliated hospital. The participants were narcolepsy probands and their first degree relatives, and, also, age and sex matched unrelated healthy controls. Interventions were not applicable.
All study subjects underwent structured interviews, overnight polysomnography followed by a multiple sleep latency test (MSLT), and HLA typing. Altogether, 33 probands and 81 first degree relatives (response rate 65%) were recruited. Among the relatives, 12.3% were diagnosed with narcolepsy and 39.5% had narcolepsy spectrum as defined by unexplained abnormal MSLT (shortened MSL and SOREMP) results. The relative risk of narcolepsy in first degree relatives was 361.8. Familial aggregation of narcolepsy symptoms, excessive daytime sleepiness, HLA status, abnormal MSLT, and nocturnal polysomnographic findings were observed.
The familial risk of narcolepsy among first degree relatives is much higher than previously reported. There exists a spectrum of narcolepsy features among relatives, ranging from full clinical tetrads to asymptomatic abnormal MSLT findings.
从临床症状、多导睡眠图数据和人类白细胞抗原 (HLA) 分型的角度来确定嗜睡症的家族聚集性。
这是一项在大学附属医院进行的家族研究。参与者为嗜睡症患者及其一级亲属，以及年龄和性别匹配的无相关健康对照者。干预措施不适用。
所有研究对象均接受了结构化访谈、整夜多导睡眠图检查和多次小睡潜伏期试验 (MSLT)，以及 HLA 分型。共有 33 名患者和 81 名一级亲属（应答率为 65%）参与了研究。在亲属中，12.3%被诊断为嗜睡症，39.5%有未解释的异常 MSLT（缩短的 MSL 和 SOREMP）结果定义的嗜睡症谱。一级亲属患嗜睡症的相对风险为 361.8。观察到嗜睡症症状、日间过度嗜睡、HLA 状态、异常 MSLT 和夜间多导睡眠图结果的家族聚集性。
一级亲属中嗜睡症的家族风险远高于以往报道。亲属中存在嗜睡症特征谱，从完整的临床四联症到无症状的异常 MSLT 发现。
