2011年中国克雅氏病监测病例特征分析  

Surveillance of Creutzfeldt-Jakob disease in China,2011

作　　者：石琦[1] 陈操[1] 周伟[1] 张宝云[1] 高晨[1] 张瑾[1] 田婵[1] 韩俊[1] 董小平[1] 

机构地区：[1]中国疾病预防控制中心病毒病预防控制所/传染病预防控制国家重点实验室,北京102206

出　　处：《疾病监测》2012年第12期928-931,共4页Disease Surveillance

基　　金：传染病预防控制国家重点实验室基金(No.2008SKLID102;2011SKLID211);国家科技重大专项(No.2009ZX10004-101);中国疾病预防控制中心青年科研基金资助(No.2012A102)~~

摘　　要：目的了解中国(未包括香港、澳门和台湾地区,以下同)克雅氏病(Creutzfeldt-Jakob disease,CJD)的发病情况、流行病学及临床特征。方法对2011年我国CJD监测网络获得的可疑CJD病例的临床及流行病学资料进行分析,收集患者脑脊液及血液样品,利用Western blot方法检测脑组织中PrPSc蛋白及脑脊液中14-3-3蛋白,提取全血基因组DNA并利用PCR及测序方法对PRNP基因进行129位多态性及基因突变的分析。结果没有发现散发型CJD确定诊断病例,发现临床诊断病例57例,疑似诊断病例15例,致死性家族型失眠症病例2例,GSS综合征病例(P102L)1例及遗传型CJD病例5例,包括V203I、E196A、E200K各1例及2例T188K突变。病例报告无季节聚集性,长久居住地呈散在分布,职业分布广泛。临床诊断病例年龄中值为61岁(43,82),男女性别比例为0.46∶1;疑似诊断病例年龄中值为62岁(39,77),男女性别比例为0.88∶1。快速进行性痴呆为最常见的首发症状,占全部诊断病例的54.93%。临床诊断病例比疑似诊断病例出现更多的典型临床表现。结论 2011年我国监测到的CJD病例主要以散发型为主,病例的报告时间、长久居住地分布、职业分布、性别比例以及年龄分布均符合散发型CJD的发病特点。Objective To understand epidemiological and clinical characteristics of Creutzfeldt-Jakob disease （CJD） in the mainland of China. Methods The analysis was conducted on the surveillance data of CJD in China in 2011 and blood and cerebral spinal fluid （CSF） specimens were collected from suspected CJD patients. Western blot assay was conducted to detect PrPsc in brain tissue and 14-3-3 protein in CSF, PCR and sequence analysis were done for the polymorphism of 129 amino acid and mutation of PRNP gene. Results No laboratory confirmed CJD case was identified, but 57 clinical diagnosed CJD cases, 15 suspected CJD cases, 2 cases of fatal familial insomnia, 1 case of Gerstmaun-Straiussler-Scheinker disease （P102L） and 5 cases of congenital CJD cases, including 1 V203I, 1 E196A, 1 E200K and 2 T188K mutations, were identified. The cases occurred sporadically and no seasonal case clustering was found. The population distribution of the cases varied, the median age of the cases was 61 years （ ranged from 43 to 82 years） and the male to female ratio of the cases was 0.46： 1. The median age of suspected cases was 62 years （ranged from 39 to 77 years ） and the male to female ratio was 0. 88： 1. Progressive dementia was the most common initial symptom in 54.93% of the clinical diagnosed cases. Clinical diagnosed CJD cases showed more typical clinical manifestations than suspected cases. Conelusion The surveillance indicated that CJD occurred sporadically in China in 2011 according to its epidemiological characteristics.

关 键 词：克雅氏病 监测 14—3—3蛋白 P刚v尸基因 

分 类 号：R742.9[医药卫生—神经病学与精神病学]