早发型发作性睡病的临床特点

Clinical features of early-onset narcolepsy

目的对比早发型及晚发型发作性睡病患者的临床及电生理检测特点。方法发作性睡病者共105例,其中15岁以下起病的早发型患者63例,平均发病年龄9.7岁±3.1岁;15岁以上起病的晚发型患者42例,平均发病年龄22.8岁±9.3岁。对比分析其临床、多导生理记录仪及多次小睡睡眠潜伏时间试验(MSLT)结果。结果全部患者均有白天嗜睡。发作性猝倒在早发型患者中发生率为92%,高于晚发型患者的76%(P=0.023);两组患者睡瘫、入睡幻觉及夜间睡眠紊乱的发生率相近(P均>0.05)。MSLT检查发现早发型患者的平均睡眠潜伏期(4.5 m in±4.0 m in及7.0 m in±5.7 m in,P=0.018)和REM睡眠潜伏期(3.4 m in±3.2 m in及4.8 m in±2.2 m in,P=0.02)更短,REM睡眠次数更多(3.4±2.0及2.5±1.9,P=0.009),晚发型患者的AHI次数更多(9.2次±16.5次及1.9次±6.3次,P=0.009),睡眠呼吸障碍较严重。3例有家族史者均为早发型患者。结论早发型发作性睡病患者的嗜睡及猝倒症状及临床特点较晚发型患者典型,其发生可能与遗传因素的关系更密切。

Objective To investigate the clinical features of early onset narcolepsy. Methods The clinical data of 105 consecutive patients with narcolepsy, 63 of which with an onset age of 9.7 ± 3. 1 on average and 42 with an onset age of 22.8 ± 9.3 on average. Interrogation, physical examination, CT, and MRI were carried out. Polysomnography was conducted. Then the data were compared between these 2 groups. Results All 105 patients showed daytime sleepiness. The incidence rate of cataplexy was 92% in the early onset group, significantly higher than that of the late onset group （ P = 0. 023 ）. There were no significant differences in the rates of sleep paralysis, hypnagogic hallucination, and disturbed nocturnal sleep. Multiple sleep latency test showed that the mean sleep latency of the early-onset group was 4.5 ± 4.0 min, significantly shorter than that of the late onset group （7.0 ± 5.7 min, P = 0. 018 ） ; the REM sleep latency of the early onset group was 3.4 ± 3.2 min, significantly shorter than that of the late onset group （4.8±2. 2 min, P =0. 02）. The number of REM sleep of the early onset group was 3.4 ± 2. 0, significantly more than that of the late onset group （2.5 ± 1.9, P =0.09）. The apnea and hypopnea index of the late onset group was 9.2 ±16.5, significantly higher than that of the early onset group （ 1.9 ± 6.3, P =0. 009 ）. The 3 cases of narcolepsy with family history were all cases of early onset narcolepsy. Conclusion Early onset narcolepsy patients have more severe daytime sleepiness and higher rate of cataplexy. The pathogenesis of early onset narcolepsy may be more closely associated with genetic factors.