发作性睡病的诊断和治疗进展
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摘要
发作性睡病是一组以白日过度嗜睡、猝倒发作、入睡前/初醒时的幻觉及睡眠瘫痪为主要症状的睡眠-觉醒障碍疾病。本文汇总发作性睡病的诊断包括临床表现、电生理及生化检测方法等,综述目前临床对症治疗的多种方案。
Narcolepsy is a sleep-wake disorder and its four common clinical features are excessive daytime sleeps, cataplexy, hypnagogic and hypnopompic hallucinations, and sleep paralysis. This review summarizes diagnosis of narcolepsy encompasses clinical, electrophysiological and biological evaluations, and reviews current several symptomatic treatments of narcolepsy.
Narcolepsy is a sleep-wake disorder and its four common clinical features are excessive daytime sleeps, cataplexy, hypnagogic and hypnopompic hallucinations, and sleep paralysis. This review summarizes diagnosis of narcolepsy encompasses clinical, electrophysiological and biological evaluations, and reviews current several symptomatic treatments of narcolepsy.
引文
[1]Lennox WG.Thomas Willis on narcolepsy[J].Arch Neurol Psychiatry,1939,41(2):348-351.
[2]Schenck CH,Bassetti CL,Arnulf I,et al.English translations of the first clinical reports on narcolepsy and cataplexy by Westphal and Gélineau in the late 19th century,with commentary[J].J Clin Sleep Med,2007,3(3):301-311.
[3]Daniels LE.Narcolepsy[J].Medicine(Baltimore),1934,13(2):1-122.
[4]Adie WJ.Idiopathic narcolepsy:a disease sui generis;with remarks on the mechanism of sleep[J].Brain,1926,49(3):257-306.
[5]Yoss RE,Daly DD.Criteria for the diagnosis of the narcoleptic syndrome[J].Proc Staff Meet Mayo Clin,1957,32(12):320-328.
[6]Guilleminault C,Dement WC,Passouant P.Narcolepsy:proceedings of the first international symposium on narcolepsy,July 1975,Montpellier,France[C].Richmond:SP Boods division of Spectrum Publications,1976.
[7]American Academy of Sleep Medicine.ICSD:3 international classification of sleep disorders[M].3rd ed.Darien IL:American Academy of Sleep Medicine,2014:143-161.
[8]Posar A,Pizza F,Parmeggiani A,et al.Neuropsychological findings in childhood narcolepsy[J].J Child Neurol,2014,29(10):1370-1376.
[9]Han F,Lin L,Warby S C,et al.Narcolepsy onset is seasonal and increased following the 2009 H1N1 pandemic in China[J].Ann Neurol,2011,70(3):410-417.
[10]Wu H,Zhuang J,Stone WS,et al.Symptoms and occurrences of narcolepsy:a retrospective study of 162 patients during a10-year period in Eastern China[J].Sleep Med,2014,15(6):607-613.
[11]Wijnans L,Lecomte C,de Vries C,et al.The incidence of narcolepsy in Europe:before,during,and after the influenza A(H1N1)pdm09 pandemic and vaccination campaigns[J].Vaccine,2013,31(8):1246-1254.
[12]Ohayon MM,Dauvilliers Y,Reynolds CF.Operational definitions and algorithms for excessive sleepiness in the general population:implications for DSM-5 nosology[J].Arch Gen Psychiatry,2012,69(1):71-79.
[13]Okun ML,Lin L,Pelin Z,et al.Clinical aspects of narcolepsycataplexy across ethnic groups[J].Sleep,2002,25(1):27-35.
[14]Taddei RN,Werth E,Poryazova R,et al.Diagnostic delay in narcolepsy type 1:combining the patients'and the doctors'perspectives[J].J Sleep Res,2016,25(6):709-715.
[15]Serra L,Montagna P,Mignot E,et al.Cataplexy features in childhood narcolepsy[J].Mov Disord,2008,23(6):858-865.
[16]Roth T,Dauvilliers Y,Mignot E,et al.Disrupted nighttime sleep in narcolepsy[J].J Clin Sleep Med,2013,9(9):955-965.
[17]Frauscher B,Ehrmann L,Mitterling T,et al.Delayed diagnosis,range of severity,and multiple sleep comorbidities:a clinical and polysomnographic analysis of 100 patients of the innsbruck narcolepsy cohort[J].J Clin Sleep Med,2013,9(8):805-812.
[18]American Academy of Sleep Medicine.ICSD-2.international classification of sleep disorders,2nd ed:Diagnostic and coding manual[M].Westchester:American Academy of Sleep Medicine,2005:81-86.
[19]Han F,Lin L,Li J,et al.TCRA,P2RY11,and CPT1B/CHKB associations in Chinese narcolepsy[J].Sleep Med,2012,13(3):269-272.
[20]Chen YH,Huang YS,Chien WH,et al.Association analysis of the major histocompatibility complex,classⅡ,DQβ1 gene,HLA-DQB1,with narcolepsy in Han Chinese patients from Taiwan[J].Sleep Med,2013,14(12):1393-1397.
[21]Han F,Faraco J,Dong XS,et al.Genome wide analysis of narcolepsy in china implicates novel immune loci and reveals changes in association prior to versus after the 2009H1N1 influenza pandemic[J].PLo S Genet,2013,9(10):e1003880-e1003880.
[22]Sakurai T.The neural circuit of orexin(hypocretin):maintaining sleep and wakefulness[J].Nat Rev Neurosci,2007,8(3):171-181.
[23]Menzler K,Belke M,Unger MM,et al.DTI reveals hypothalamic and brainstem white matter lesions in patients with idiopathic narcolepsy[J].Sleep Med,2012,13(6):736-742.
[24]Nakamura M,Nishida S,Hayashida K,et al.Differences in brain morphological findings between narcolepsy with and without cataplexy[J].PLo S One,2013,8(11):e81059-e81059.
[25]Johns MW.A new method for measuring daytime sleepiness:the Epworth sleepiness scale[J].Sleep,1991,14(6):540-545.
[26]Hoddes E,Zarcone V,Smythe H,et al.Quantification of sleepiness:a new approach[J].Psychophysiology,1973,10(4):431-436.
[27]Drake C,Nickel C,Burduvali E,et al.The pediatric daytime sleepiness scale(PDSS):sleep habits and school outcome in middle-school children[J].Sleep,2003,26(4):455-458.
[28]李生慧,金星明,沈晓明,等.儿童睡眠习惯问卷中文版制定及测量性能考核[J].中华儿科杂志,2007,45(3):176-180.
[29]Murali H,Kotagal S.Off-label treatment of severe childhood narcolepsy-cataplexy with sodium oxybate[J].Sleep,2006,29(8):1025-1029.
[30]Black J,Pardi D,Hornfeldt CS,et al.The nightly use of sodium oxybate is associated with a reduction in nocturnal sleep disruption:a double-blind,placebo-controlled study in patients with narcolepsy[J].J Clin Sleep Med,2010,6(6):596-602.
[31]Wong YN,King SP,Simcoe D,et al.Open-label,single-dose pharmacokinetic study of modafinil tablets:influence of age and gender in normal subjects[J].J Clin Pharmacol,1999,39(3):281-288.
[32]Ivanenko A,Tauman R,Gozal D.Modafinil in the treatment of excessive daytime sleepiness in children[J].Sleep Med,2003,4(6):579-582.
[33]Inocente C,Arnulf I,Bastuji H,et al.Pitolisant,an inverse agonist of the histamine H3 receptor:an alternative stimulant for narcolepsy-cataplexy in teenagers with refractory sleepiness[J].Clin Neuropharmacol,2012,35(2):55-60.
[34]Mignot EJ.A practical guide to the therapy of narcolepsy and hypersomnia syndromes[J].Neurotherapeutics,2012,9(4):739-752.
[35]Billiard M,Bassetti C,Dauvilliers Y,et al.EFNS guidelines on management of narcolepsy[J].Eur J Neurol,2006,13(10):1035-1048.
[36]Broderick M,Guilleminault C.Rebound cataplexy after withdrawal from antidepressants[J].Sleep Med,2009,10(4):403-404.
[37]Burgess CR,Scammell TE.Narcolepsy:neural mechanisms of sleepiness and cataplexy[J].J Neurosci,2012,32(36):12305-12311.
[2]Schenck CH,Bassetti CL,Arnulf I,et al.English translations of the first clinical reports on narcolepsy and cataplexy by Westphal and Gélineau in the late 19th century,with commentary[J].J Clin Sleep Med,2007,3(3):301-311.
[3]Daniels LE.Narcolepsy[J].Medicine(Baltimore),1934,13(2):1-122.
[4]Adie WJ.Idiopathic narcolepsy:a disease sui generis;with remarks on the mechanism of sleep[J].Brain,1926,49(3):257-306.
[5]Yoss RE,Daly DD.Criteria for the diagnosis of the narcoleptic syndrome[J].Proc Staff Meet Mayo Clin,1957,32(12):320-328.
[6]Guilleminault C,Dement WC,Passouant P.Narcolepsy:proceedings of the first international symposium on narcolepsy,July 1975,Montpellier,France[C].Richmond:SP Boods division of Spectrum Publications,1976.
[7]American Academy of Sleep Medicine.ICSD:3 international classification of sleep disorders[M].3rd ed.Darien IL:American Academy of Sleep Medicine,2014:143-161.
[8]Posar A,Pizza F,Parmeggiani A,et al.Neuropsychological findings in childhood narcolepsy[J].J Child Neurol,2014,29(10):1370-1376.
[9]Han F,Lin L,Warby S C,et al.Narcolepsy onset is seasonal and increased following the 2009 H1N1 pandemic in China[J].Ann Neurol,2011,70(3):410-417.
[10]Wu H,Zhuang J,Stone WS,et al.Symptoms and occurrences of narcolepsy:a retrospective study of 162 patients during a10-year period in Eastern China[J].Sleep Med,2014,15(6):607-613.
[11]Wijnans L,Lecomte C,de Vries C,et al.The incidence of narcolepsy in Europe:before,during,and after the influenza A(H1N1)pdm09 pandemic and vaccination campaigns[J].Vaccine,2013,31(8):1246-1254.
[12]Ohayon MM,Dauvilliers Y,Reynolds CF.Operational definitions and algorithms for excessive sleepiness in the general population:implications for DSM-5 nosology[J].Arch Gen Psychiatry,2012,69(1):71-79.
[13]Okun ML,Lin L,Pelin Z,et al.Clinical aspects of narcolepsycataplexy across ethnic groups[J].Sleep,2002,25(1):27-35.
[14]Taddei RN,Werth E,Poryazova R,et al.Diagnostic delay in narcolepsy type 1:combining the patients'and the doctors'perspectives[J].J Sleep Res,2016,25(6):709-715.
[15]Serra L,Montagna P,Mignot E,et al.Cataplexy features in childhood narcolepsy[J].Mov Disord,2008,23(6):858-865.
[16]Roth T,Dauvilliers Y,Mignot E,et al.Disrupted nighttime sleep in narcolepsy[J].J Clin Sleep Med,2013,9(9):955-965.
[17]Frauscher B,Ehrmann L,Mitterling T,et al.Delayed diagnosis,range of severity,and multiple sleep comorbidities:a clinical and polysomnographic analysis of 100 patients of the innsbruck narcolepsy cohort[J].J Clin Sleep Med,2013,9(8):805-812.
[18]American Academy of Sleep Medicine.ICSD-2.international classification of sleep disorders,2nd ed:Diagnostic and coding manual[M].Westchester:American Academy of Sleep Medicine,2005:81-86.
[19]Han F,Lin L,Li J,et al.TCRA,P2RY11,and CPT1B/CHKB associations in Chinese narcolepsy[J].Sleep Med,2012,13(3):269-272.
[20]Chen YH,Huang YS,Chien WH,et al.Association analysis of the major histocompatibility complex,classⅡ,DQβ1 gene,HLA-DQB1,with narcolepsy in Han Chinese patients from Taiwan[J].Sleep Med,2013,14(12):1393-1397.
[21]Han F,Faraco J,Dong XS,et al.Genome wide analysis of narcolepsy in china implicates novel immune loci and reveals changes in association prior to versus after the 2009H1N1 influenza pandemic[J].PLo S Genet,2013,9(10):e1003880-e1003880.
[22]Sakurai T.The neural circuit of orexin(hypocretin):maintaining sleep and wakefulness[J].Nat Rev Neurosci,2007,8(3):171-181.
[23]Menzler K,Belke M,Unger MM,et al.DTI reveals hypothalamic and brainstem white matter lesions in patients with idiopathic narcolepsy[J].Sleep Med,2012,13(6):736-742.
[24]Nakamura M,Nishida S,Hayashida K,et al.Differences in brain morphological findings between narcolepsy with and without cataplexy[J].PLo S One,2013,8(11):e81059-e81059.
[25]Johns MW.A new method for measuring daytime sleepiness:the Epworth sleepiness scale[J].Sleep,1991,14(6):540-545.
[26]Hoddes E,Zarcone V,Smythe H,et al.Quantification of sleepiness:a new approach[J].Psychophysiology,1973,10(4):431-436.
[27]Drake C,Nickel C,Burduvali E,et al.The pediatric daytime sleepiness scale(PDSS):sleep habits and school outcome in middle-school children[J].Sleep,2003,26(4):455-458.
[28]李生慧,金星明,沈晓明,等.儿童睡眠习惯问卷中文版制定及测量性能考核[J].中华儿科杂志,2007,45(3):176-180.
[29]Murali H,Kotagal S.Off-label treatment of severe childhood narcolepsy-cataplexy with sodium oxybate[J].Sleep,2006,29(8):1025-1029.
[30]Black J,Pardi D,Hornfeldt CS,et al.The nightly use of sodium oxybate is associated with a reduction in nocturnal sleep disruption:a double-blind,placebo-controlled study in patients with narcolepsy[J].J Clin Sleep Med,2010,6(6):596-602.
[31]Wong YN,King SP,Simcoe D,et al.Open-label,single-dose pharmacokinetic study of modafinil tablets:influence of age and gender in normal subjects[J].J Clin Pharmacol,1999,39(3):281-288.
[32]Ivanenko A,Tauman R,Gozal D.Modafinil in the treatment of excessive daytime sleepiness in children[J].Sleep Med,2003,4(6):579-582.
[33]Inocente C,Arnulf I,Bastuji H,et al.Pitolisant,an inverse agonist of the histamine H3 receptor:an alternative stimulant for narcolepsy-cataplexy in teenagers with refractory sleepiness[J].Clin Neuropharmacol,2012,35(2):55-60.
[34]Mignot EJ.A practical guide to the therapy of narcolepsy and hypersomnia syndromes[J].Neurotherapeutics,2012,9(4):739-752.
[35]Billiard M,Bassetti C,Dauvilliers Y,et al.EFNS guidelines on management of narcolepsy[J].Eur J Neurol,2006,13(10):1035-1048.
[36]Broderick M,Guilleminault C.Rebound cataplexy after withdrawal from antidepressants[J].Sleep Med,2009,10(4):403-404.
[37]Burgess CR,Scammell TE.Narcolepsy:neural mechanisms of sleepiness and cataplexy[J].J Neurosci,2012,32(36):12305-12311.