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2012年我国克雅氏病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并利用聚合酶链反应(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。结果发现散发型CJD确定诊断病例1例,临床诊断病例63例,疑似诊断病例29例,遗传型CJD病例8例(突变分别为R208H、E196A和V180I各1例、E200K 2例、T188K3例)及致死性家族型失眠症病例5例(突变为D178N,129M/M)。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59岁(39,79),男女性别比为0.91∶1;疑似诊断病例年龄中值为53岁(36,84),男女性别比为1.41∶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46.74%。临床诊断病例中,同时出现3种典型临床表现的为29例,占46.03%,同时出现4种典型临床表现的为8例,占12.70%,而疑似诊断病例大部分只出现2种典型临床表现。脑脊液14-3-3蛋白、脑电图EEG以及头颅MRI 3项检测结果中,出现阳性结果越多的病例表现出更多的典型临床表现。结论 2012年我国监测到的CJD病例主要以散发型为主,快速进行性痴呆为最常见的首发症状,临床诊断病例比疑似诊断病例出现更多的典型临床表现,脑脊液14-3-3蛋白、脑电图EEG以及头颅MRI 3项检测结果中,阳性结果越多,患者出现典型临床表现越多。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 the epidemiological and clinical characteristics of Creutzfeldt-Jakob disease （ CJD） in China. Methods The clinical and epidemical information of patients from China cm surveillance network was analyzed. Blood and cerebral spinal fluid （ CSF） specimens were collected from them. Western blot assay was used for detecting Prps, in brain tissue and 14 - 3 - 3 protein in CSF, PCR and sequencing assay were used for analyzing the polymorphism of 129 amino acid and mutation of PRNP gene. Results One CJD case was identified, 63 clinical diagnosed and 29 suspected sporadic CJD cases were detected. Additionally, 5 fatal familial insomnia （ FFI） cases, 8 genetic CJD cases, including 1 V180r case, 1 E196A case, 1 R208H case, 2 E200K cases and 3 T188K cases, were definitely diagnosed. No clustering was observed among these cases. The median age of clinical diagnosed and suspected CJD cases was 59 yeas （39 - 79 years） and 53 years （36 - 84 years） respectively. The male to female ratio of the clinical diagnosed CJD cases was O. 91： 1 , while that of suspected CJD cases was 1. 41： 1. Rapidly progressive dementia was the major initial symptom detected in 46.74% of the CJD cases. Clinical diagnosed CJD cases showed more clinical manifestations than suspected cases. Conclusion The CJD cases detected occurred sporadically in China in 2012. Rapidly progressive dementia was the major initial symptom, which was detected in 46.74% of the CJD cases. Clinical diagnosed CJD cases showed more clinical manifestations than suspected cases. The gender ratio and mean onset age of the CID cases in China in 2012 were consistent with the general characteristics of sporadic CID in the world.
出处
《疾病监测》
CAS
2014年第1期9-13,共5页
Disease Surveillance
基金
传染病预防控制国家重点实验室基金(No.2008SKLID102
2011SKLID211)
传染病重大专项(No.2009ZX10004-101)
中国疾病预防控制中心青年科研基金资助(No.2012A102)~~
