Bourgin Patrice, Zeitzer Jamie M, Mignot Emmanuel
Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.
Lancet Neurol. 2008 Jul;7(7):649-62. doi: 10.1016/S1474-4422(08)70140-6.
Concentrations of CSF hypocretin-1 (formerly orexin A) have been measured in many patients with sleep or neurological conditions. Low CSF hypocretin-1 is most predictive of narcolepsy in patients positive for HLA allele DQB10602, most of whom have cataplexy. By contrast, the diagnostic significance of low CSF hypocretin-1 is unclear in the presence of acute CNS inflammation or trauma. The clinical usefulness of CSF testing in hypersomnia that is symptomatic of a neurological disorder remains to be evaluated. Determination of CSF hypocretin-1 concentration to diagnose narcolepsy might be most useful in ambulatory patients with cataplexy but with a normal multiple sleep latency test (MSLT) result, or if MSLT is not interpretable, conclusive, or feasible. Because 98% of patients with hypocretin-1 deficiency are positive for HLA DQB10602, we suggest that HLA typing is a useful screen before lumbar puncture. Although hypocretin-1 deficiency in narcolepsy might have therapeutic relevance, additional research is needed in this area.
许多患有睡眠或神经系统疾病的患者都已检测过脑脊液中食欲素-1（原称食欲素A）的浓度。脑脊液中食欲素-1水平低对携带HLA等位基因DQB10602阳性的患者患发作性睡病最具预测性，其中大多数患者有猝倒症状。相比之下，在存在急性中枢神经系统炎症或创伤的情况下，脑脊液中食欲素-1水平低的诊断意义尚不清楚。脑脊液检测在有神经系统疾病症状的发作性睡病中的临床实用性仍有待评估。测定脑脊液中食欲素-1浓度以诊断发作性睡病，可能对有猝倒症状但多次睡眠潜伏期试验（MSLT）结果正常的门诊患者最为有用，或者在MSLT无法解释、不确定或不可行的情况下也很有用。由于98%的食欲素-1缺乏患者HLA DQB10602呈阳性，我们建议在腰椎穿刺前进行HLA分型作为一项有用的筛查。虽然发作性睡病中食欲素-1缺乏可能具有治疗意义，但该领域还需要更多研究。
