【广东会GDH基因检测】睡眠障碍用药指导基因检测
遗传病、罕见病基因检测导读：
睡眠相关障碍是一组对患者的生活质量和生理功能有显著影响的疾病。睡眠障碍的诊断治疗是多个医学学科共同关心的问题。
睡眠障碍是《人体疾病表征》中的一个专项
睡眠对一个人的健康和幸福至关重要。睡眠障碍会降低生活质量和睡眠质量，是导致是继发性疾病的危险因素，可能引起多种其他疾病。睡眠是一个动态而复杂的行为过程。睡眠障碍在这种复杂过程中发生。《睡眠障碍国际分类》及《人体疾病表征》数据库将睡眠障碍分为六大类。但患者在就医时，通常不遵循人体疾病表征分类的逻辑关系，但描述以下3种主要症状：
- 无法入睡或整夜无法入睡
- 白天过度嗜睡；或
- 与睡眠相关的运动现象。
睡眠相关疾病的多样性反映在护理这些患者所需要的专业门类，从呼吸医学到耳鼻喉 科再到牙科。广东会GDH基因神经系统药物药指导基因检测中的睡眠障碍用药指导基因检测主要是针对神经病学和精神病学直接相关的睡眠相关疾病，并根据他们的主诉来探索诊断和治疗的个性化问题。
| 人体疾病表征分类 | 典型诊断 | 典型症状 |
| 失眠 | 慢性失眠 | 睡眠启动和维持障碍 |
| 睡眠相关呼吸障碍 | 阻塞性睡眠呼吸暂停综合征（OSAS） | 白天过度嗜睡 |
| 中枢性嗜睡障碍 | 嗜睡症 | 白天过度嗜睡、昏厥（伴有嗜睡症） |
| 半睡半醒 | 梦游症 | 夜间活动，起床 |
| 睡眠相关运动障碍 | 不宁腿综合征 | 动腿冲动，睡眠障碍 |
| 昼夜节律性睡眠障碍 | 轮班工作，时差 | 睡眠启动和维持障碍、早醒、白天过度嗜睡、消化不良 |
睡眠障碍的药物治疗
缓解失眠症状的药物治疗
| Substance (and dose) |
Effect depending on the study population |
Notes |
| Benzodiazepines and Z-drugs |
Zopiclone: Sleep latency − 12 min Sleep duration + 28 min (LoE Ia; e17) |
Approved for the treatment of primary insomnia; typically, it is not used longer than 4 weeks. Warning: development of tolerance and dependence |
| Melatonin |
Sleep latency − 5 min Sleep duration n.s. (LoE Ia; e18) |
Approved in prolonged-release dosage form for the treatment of insomnia in patients over 55 years of age |
| Mirtazapine (3.75–15 mg) |
Sleep latency − 2 min Sleep duration + 9 min (LoE IIb; e19–e20) |
Primarily for symptomatic sleep disorder associated with depression, not approved for the treatment of primary insomnia (“off-label“ use) |
| Doxepin (1–50 mg) |
Sleep latency − 3 min Sleep duration + 24 min (LoE Ib; e21–e22) |
Primarily for symptomatic sleep disorder associated with depression; in some cases, very low doses (drops) highly effective; not approved for the treatment of primary insomnia (“off-label“ use) |
| Quetiapine (25–75 mg) |
Sleep latency − 2 min Sleep duration + 14 min (LoE IIb; e20) |
Primarily for symptomatic sleep disorder associated with depression and psychotic disorders; not approved for the treatment of primary insomnia (“off-label“ use) |
| Trimipramine (50–100 mg) |
Sleep efficiency + 7% Sleep duration + 18 min (LoE IIb; e23) |
Often used with good clinical response; improves sleep efficiency, but not overall sleep time. |
| Melperone/Pipamperone | No controlled trials (LoE V) | Older butyrophenones, used primarily in gerontopsychiatry („off label“ use) |
LoE, level of evidence; n.s., non-significant。
发作性睡病的药物治疗
| Agent | Indication | Posology |
| Modafinil | EDS (LoE Ia; e39–e40) | 200–400 mg/d, max. 600 mg |
| Methylphenidate (controlled substance prescription required) | EDS (LoE II; e39) | 10–60 mg/d |
| Pitolisant | EDS (LoE Ib; e41) cataplexy (LoE Ib; e41) | 4.5–36 mg |
| Sodium oxybate (controlled substance ‧prescription required) |
EDS, cataplexy (reduced by 90%) Improvement of nighttime sleep (LoE for both Ib; e39, e42) |
4.5–9 g/d |
| Clomipramine | Cataplexy (LoE III; e39, e43) | 10–150 mg/d |
| Venlafaxine | Cataplexy (LoE IV; e39, e44) | 37.5–300 mg/d not approved |
EDS, excessive daytime sleepiness; LoE, level of evidence
(责任编辑：广东会GDH基因)
