【佳學(xué)基因檢測】睡眠障礙用藥指導(dǎo)基因檢測
遺傳病、罕見病基因檢測導(dǎo)讀：
睡眠相關(guān)障礙是一組對患者的生活質(zhì)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(xué)學(xué)科共同關(guān)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(guān)重要。睡眠障礙會降低生活質(zhì)量和睡眠質(zhì)量，是導(dǎo)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(fù)雜的行為過程。睡眠障礙在這種復(fù)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(guān)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(guān)的運動現(xiàn)象。
睡眠相關(guān)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(xué)到耳鼻喉 科再到牙科。佳學(xué)基因神經(jīng)系統(tǒng)藥物藥指導(dǎo)基因檢測中的睡眠障礙用藥指導(dǎo)基因檢測主要是針對神經(jīng)病學(xué)和精神病學(xué)直接相關(guān)的睡眠相關(guān)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(guān)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(guān)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(zé)任編輯：佳學(xué)基因)
