Abstract:

Objective  To investigate the characteristics and potential mechanisms of sleep disorders in patients with hepatolenticular degeneration (HLD), also known as Wilson's disease (WD).  Methods  Twenty-six patients with HLD completed a questionnaire concerning Parkinson's Disease Sleep Scale (PDSS), Epworth Sleepiness Scale (ESS) and Pittsburgh Sleep Quality Index (PSQI).  Results  The sleep quality of patients with HLD was significantly worse than controls. Their overall PDSS score was lower than the controls (P = 0.000), including sub tests such as worse overall quality of sleep at night (P = 0.010), more difficulty falling asleep (P = 0.009), increased difficulty staying asleep (P = 0.013), increased tremor (P = 0.005), more tiredness and sleepiness after waking up in the morning (P = 0.042) and excessive daytime sleepiness (EDS, P = 0.028). The mean ESS (P = 0.009) as well as PSQI (P = 0.005) scores of HLD patients was higher than those of the controls. Further analysis showed that total PDSS score of neurological HLD group was lower than hepatic HLD group and asymptomatic HLD group (P = 0.046), including sub tests such as worse overall quality of sleep at night (P = 0.021), increased difficulty falling asleep (P = 0.009) and more difficulty staying asleep (P = 0.002).  Conclusions  Patients with HLD often suffer from sleep disturbances, mainly including difficulty falling asleep, difficulty staying asleep at night and EDS. Besides, sleep quality was significantly worse in patients with neurological HLD than that of hepatic HLD and asymptomatic HLD. 

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摘要：

目的 探讨肝豆状核变性（HLD）患者睡眠障碍特点及其潜在发生机制。方法 采用帕金森病睡眠量表（PDSS）、Epworth 嗜睡量表（ESS）和匹兹堡睡眠质量指数（PSQI）评价26 例肝豆状核变性患者的睡眠障碍。结果 HLD 组患者PDSS 总评分低于对照组（P = 0.000），其中，夜间总体睡眠质量（P = 0.010）、入睡困难（P = 0.009）、睡眠维持困难（P = 0.013）、震颤（P = 0.005）、清晨醒后感觉困倦欲睡（P = 0.042）和白天过度嗜睡（P = 0.028）等分评分亦低于对照组；而ESS（P = 0.009）和PSQI（P = 0.005）评分高于对照组。进一步分析肝豆状核变性各亚组患者睡眠障碍，脑型HLD 组PDSS 总评分低于肝型HLD 组和无症状型HLD 组（P = 0.046），其中，夜间总体睡眠质量（P = 0.021）、入睡困难（P = 0.009）和睡眠维持困难（P = 0.002）等分评分亦低于肝型HLD 组和无症状型HLD 组。结论 肝豆状核变性患者常合并睡眠障碍且以入睡困难、夜间觉醒和白天过度嗜睡为主，其中脑型肝豆状核变性患者睡眠质量差于肝型和无症状型患者。肝豆状核变性睡眠障碍的发生机制尚待进一步研究。

关键词: 肝豆状核变性, 睡眠障碍