中文摘要：

目的总结分析周期性嗜睡[即Kleine－Levin综合征（KLS）]患者的临床特征。方法系统整理2002年1月至2013年7月年在北京大学人民医院睡眠中心确诊的44例KLS患者的临床资料，总结其发病诱因、临床症状并与国外大型KLS研究结果进行对比；患者行整夜多导睡眠图（PSG）监测、多次小睡睡眠潜伏期试验（MSLT），比较患者缓解期及发作期的睡眠潜伏期和睡眠起始于快眼动睡眠期（SOREM）现象的差异；并行人类白细胞抗原（HLA）－DQB1＊0602基因型测定及分析。结果44例患者中男28例（63.6%），女16例（36.4%），年龄（18.3±8.9）岁。患者多为青春期发病，主要诱因为感染或发热；临床表现包括嗜睡44例（100.0%）、健忘31例（70.5%）、食欲减退26例（59.1%）、低龄化表现24例（54.5%）、抑郁18例（40.9%）等；与国外研究报道患者以食欲亢进为主不同，本组患者以食欲减退居多。PSG检查结果未见明显异常；MSLT显示患者睡眠潜伏期在发作期显著短于缓解期[（10.4±5.4）比（15.3±3.4）min，P＝0.009]。40例患者中12例（30.0%）HLA－DQB1＊0602基因检测阳性，与既往报道的中国人群的数据相似。结论KLS的临床特征具有多样性，中西方患者食欲表现可能不同。

英文摘要：

ObjectiveTo analyze the clinical features of Kleine-Levin syndrome （KLS） patients.MethodsClinical data of 44 patients with KLS of the Sleep Center of Peking University People′s Hospital from January 2002 to July 2013 were systematically reviewed. The predisposing factors and clinical presentations were summarized, and compared with the data from a Western KLS study with a large subjects number. Nocturnal polysomnography （PSG） and multiple sleep latency test （MSLT） were conducted during relapse and remission period, respectively. HLA-DQB1＊0602 gene were screened and analyzed.ResultsAmong the 44 patients, 28（63.6%） were men and 16（36.4%） were women, with a mean age of （18.3±8.9） years old. Most patients developed the symptoms during adolescence. Infection or fever was the most common trigger for episode. The main clinical presentations were 44（100.0%） hypersomnia, 31（70.5%） forgetfulness, 26（59.1%） decreased appetites, 24（54.5%） juvenile behavior, 18（40.9%） depression, etc. Compared with the Western study, it showed that our patients had decreased instead of increased appetite. The PSG testing did not have remarkable findings. MSLT showed mean sleep latency was significantly shorter during relapse than during remission [（10.4±5.4） vs （15.3±3.4） min, P=0.009]. HLA-DQB1＊0602 was positive in 12 of 40（30.0%） patients, which was similar to the data in the Chinese population.ConclusionsKLS has various clinical characteristics. The presentation of appetite may be different between Chinese and western KLS patients.