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目的 探讨人类白细胞抗原 (HLA)Ⅱ抗原基因在发作性睡病患者发病中的作用。方法 31例患者经系统的病史询问、查体及头颅CT ,MRI检查排除了神经系统的其他疾患。均经多次小睡潜伏时间试验 (MSLT)测试及应用血清学方法进行HLADR2 测定 ;2 1例经特异性引物体外基因扩增 (PCR SSP)方法测定HLADR及HLADQ基因型。结果 31例患者均符合发作性睡病的诊断。均有嗜睡、发作性猝倒 ,14例诉睡瘫 ,19例有入睡幻觉。MSLT试验示平均睡眠潜伏期为 2 1min± 1 3min ( 0 5～ 6min)。在 5次小睡中 ,30例患者出现异常的快动眼 (REM)睡眠 ,且均大于 2次 ,平均为4 2次± 1次 ( 2～ 5次 ) ,异常REM睡眠的潜伏期为 4 0min± 1 8min ( 0 8～ 7 9min)。在 31例患者中 ,HLADR2 阳性率为 96 8%( 30 / 31)。PCR SSP测定发现 2 0例HLADR2 阳性患者的亚型均为HLADRB 15 ,大部分是HLADRB1 15 0 1,但有 2例为HLADRB1 15 0 2。HLADQB1 0 6 0 2的阳性率为86 %( 18/ 2 1)。结论 HLADR2 及HLADQw6是发作性睡病的可能易感基因 ,但不同于文献报道东方人发作性睡病HLADR2 HLADQw6 10 0 %阳性的报道。
Objective To investigate the role of human leukocyte antigen (HLA) Ⅱ antigen in the pathogenesis of narcolepsy. Methods 31 patients were asked by the history of the system, examination of the body and head CT, MRI exclude other diseases of the nervous system. HLADR2 was determined by multiple snooze latency test (MSLT) and serological methods. Twenty-one cases of HLADR and HLADQ genotypes were detected by PCR-specific in vitro gene amplification (PCR SSP). Results All the 31 patients were diagnosed as narcolepsy. Have lethargy, catastrophic cataplexy, 14 cases of paralysis, 19 cases of sleep hallucinations. MSLT test showed an average sleep latency of 21 min ± 1 3 min (0 5 ~ 6 min). Thirty patients had abnormal REM sleep on five occasions, all of which were more than 2 times, with an average of 42 ± 1 times (2 ~ 5 times). The latency of REM sleep was 40 minutes 1 8min (0 8 ~ 7 9min). Among 31 patients, the positive rate of HLADR2 was 96.8% (30/31). PCR SSP assay found that 20 subtypes of HLADR2-positive patients were HLADRB 15, most of them HLADRB1 15 0 1, but two cases of HLADRB1 15 0 2. The positive rate of HLADQB1 0 6 0 2 was 86% (18/2 1). Conclusion HLADR2 and HLADQw6 are possible susceptibility genes of narcolepsy, but they are different from the 10% positive reports of HLADR2 HLADQw6 in oriental people.