猝倒并HLA-DQB1＊0602阳性对发作性睡病患者下丘脑分泌素-1降低的预测价值  

Predictive value of typical cataplexy ＋ DQB1＊ 0602 positive to hypocretin-1 reduction in cerebrospinal fluid in patients with narcolepsy

作　　者：常远 董霄松[2] 李静[2] 张晓喆[1] 闫涵[2] 张伟[1] 赵龙[2] 左玉花 余永波 窦亚伦 冯军军 韩芳[2] Chang Yuan;Dong Xiaosong;Li Jing;zhang Xiaozhe;Yan Han;Zhang Wei;Zhao Long;Zuo Yuhua;Yu Yongbo;Dou Yalun;Feng Junjun;Han fang(Department of Respiratory Medicine,Peking University International Hospital,Beijing 102206,China;Corresponding author： Han Fang,Department of Respiratory Medicine,Peking University People＇s Hospital,Beijing 100034,China)

机构地区：[1]北京大学国际医院呼吸科,102206 [2]北京大学人民医院呼吸科

出　　处：《中华医学杂志》2018年第40期3253-3257,共5页National Medical Journal of China

基　　金：国家重点基础研究发展计划（2015CB856405）;国家自然科学基金（81570083,81420108002）

摘　　要：目的探讨典型猝倒并人类白细胞抗原（HLA）-DQB1＊0602（＋）对发作性睡病患者脑脊液下丘脑分泌素（HCRT）-1降低的预测价值。方法收集2003年3月至2017年3月在北京大学人民医院和北京大学国际医院睡眠中心就诊的发作性睡病患者共165例，对所有入组患者进行DQB1＊0602基因及脑脊液HCRT-1测定。依据能否同时满足猝倒并DQB1＊0602（＋）将入组患者分为2组：同时具有典型猝倒和DQB1＊0602（＋）的患者为CH组，不能同时满足典型猝倒病史和DQB1＊0602（＋）的患者为NCH组，后以脑脊液中HCRT-1≤110ng／L作为HCRT-1明显降低标准对上述两组再分亚组进行分析，判断典型猝倒并DQB1＊0602（＋）对HCRT-1降低的预测价值。结果CH组患者142例，其中HCRT-1降低137例，无HCRT-1降低5例；NCH组患者23例，其中NCH组中HCRT-1降低15例，无HCRT-1降低8例。典型猝倒并DQB1＊0602（＋）对脑脊液HCRT-1降低的阳性预测值为96．5％；典型猝倒并DQB1＊0602（＋）与脑脊液HCRT-1降低具有很好的一致性（X^2=26．7，P〈0．001）。结论典型猝倒联合DQB1＊0602（＋）对发作性睡病患者脑脊液中HCRT-1降低具有较好的预测价值。Objective To discusses the predictive value of typical cataplexy ＋ HLA-DQB1 ＊ 0602 positive to hypocretin-1 （HCRT-1） reduction in cerebrospinal fluid （CSF） in patients with narcolepsy. Methods A total of 165 narcoleptic patients, who were diagnosed at the Sleep Center of Peking University People＇s Hospital and Peking University International Hospital from March 2003 to March 2017, were recruited. The CSF HCRT-1 level and DQB1 ＊ 0602 were measured in all the subjects. The narcoleptic patients were divided into two groups ： typical eataplexy ＋ DQB1 ＊ 0602 positive were CH group, and others who were not typical cataplexy and DQB1 ＊ 0602 positive simultaneously were NCH group. The HCRT-1 level in CSF was declared to have a serious reduction when HCRT-1 〈 110 ng/L According to this standard, the CH group and NCH group were subdivided into sub-groups and the data was analyzed to investigate the predictive value of typical cataplexy ＋ HLA-DQB1 ＊ 0602 positive to HCRT-1 reduction. Results There were 142 patients in CH group, including 137 patients with HCRT-1 reduction and 5 patients without. There were 23 patients in NCH group, including 15 patients with HCRT-1 reduction and 8 patients without. The positive predictive value of typical cataplexy ＋ DQB1 ＊ 0602 positive for the reduction of HCRT-I in CSF was 96. 5%. Typical cataplexy ＋ DQB1 ＊ 0602 positive had a good consistency with the HCRT-1 reduction in CSF （ X^2 = 26. 7, P 〈 0. 001 ） . Conclusion Typical cataplexy ＋ DQB1 ＊ 0602 positive has a good predictive value to the HCRT-1 reduction in CSF in patients with narcolepsy.

关 键 词：发作性睡病 下丘脑分泌素 猝倒症 DQB1＊0602基因 

分 类 号：R740[医药卫生—神经病学与精神病学]