【佳學基因檢測】睡眠障礙用藥指導基因檢測
遺傳病、罕見病基因檢測導讀：
睡眠相關障礙是一組對患者的生活質量和生理功能有顯著影響的疾病。睡眠障礙的診斷治療是多個醫(yī)學學科共同關心的問題。
睡眠障礙是《人體疾病表征》中的一個專項
睡眠對一個人的健康和幸福至關重要。睡眠障礙會降低生活質量和睡眠質量，是導致是繼發(fā)性疾病的危險因素，可能引起多種其他疾病。睡眠是一個動態(tài)而復雜的行為過程。睡眠障礙在這種復雜過程中發(fā)生?！端哒系K國際分類》及《人體疾病表征》數(shù)據(jù)庫將睡眠障礙分為六大類。但患者在就醫(yī)時，通常不遵循人體疾病表征分類的邏輯關系，但描述以下3種主要癥狀：
- 無法入睡或整夜無法入睡
- 白天過度嗜睡；或
- 與睡眠相關的運動現(xiàn)象。
睡眠相關疾病的多樣性反映在護理這些患者所需要的專業(yè)門類，從呼吸醫(yī)學到耳鼻喉 科再到牙科。佳學基因神經(jīng)系統(tǒng)藥物藥指導基因檢測中的睡眠障礙用藥指導基因檢測主要是針對神經(jīng)病學和精神病學直接相關的睡眠相關疾病，并根據(jù)他們的主訴來探索診斷和治療的個性化問題。
| 人體疾病表征分類 | 典型診斷 | 典型癥狀 |
| 失眠 | 慢性失眠 | 睡眠啟動和維持障礙 |
| 睡眠相關呼吸障礙 | 阻塞性睡眠呼吸暫停綜合征（OSAS） | 白天過度嗜睡 |
| 中樞性嗜睡障礙 | 嗜睡癥 | 白天過度嗜睡、昏厥（伴有嗜睡癥） |
| 半睡半醒 | 夢游癥 | 夜間活動，起床 |
| 睡眠相關運動障礙 | 不寧腿綜合征 | 動腿沖動，睡眠障礙 |
| 晝夜節(jié)律性睡眠障礙 | 輪班工作，時差 | 睡眠啟動和維持障礙、早醒、白天過度嗜睡、消化不良 |
睡眠障礙的藥物治療
緩解失眠癥狀的藥物治療
| 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。
發(fā)作性睡病的藥物治療
| 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
(責任編輯：佳學基因)
