摘要
目的了解中国克雅氏病(Creutzfeldt-Jakob disease,CJD)的发病情况及流行病学、临床特征。方法对2009年中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方法检测脑组织中的PrPSc蛋白及脑脊液中的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。结果共发现散发型CJD(sporadic CJD)确诊病例1例,临床诊断病例31例,疑似病例31例,3例FFI病例及3例家族型克雅氏病确诊病例,包括G114V、E196K、T188K突变。病例报告无季节聚集性,长久居住地的地理分布散在,职业分布广泛。临床诊断病例平均年龄为60岁,男女性别比为12∶19;疑似病例平均年龄为52岁,男女性别比为14∶17。快速进行性痴呆为最常见的首发症状,占全部诊断病例的48.4%。临床诊断病例比疑似病例出现更多的典型临床表现。结论 2009年中国监测到的CJD病例主要以散发型为主,报告时间、居住地、职业、男女比例以及年龄分布均符合散发型CJD的分布特点。
Objective To describe epidemiological and clinical characteristics of Creutzfeldt-Jakob disease （CJD） patients in China. Methods The clinical and epidemical information of patients from China CJD surveillance network was analyzed. Blood and cerebral spinal fluid （CSF） specimens from these patients were collected. Western blot assay was used for detecting PrPsc 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 Totally 1 definite CJD patient, 31 probable and 31 possible sporadic CJD patients were identified. Additionally, 3 FFI cases and 3 genetic CJD cases including Gll4V, E196K, T188K were definitely diagnosed. No period-, geographic-or occupational-related events were observed among these cases. The mean onset age of probably and possibly diagnosed CJD patients were 60 and 52 years old, respectively. The male to female ratio of the probable CJD patients was 12：19 while that of the possible CJD patients was 14： 17. Rapidly progressive dementia was the main foremost symptom, presenting in 48.4% of the CJD patients. Probable CJD patients showed more clinical manifestations than that of the possible one. Conclusion The period and geography distribution, occupation, the ratio of gender and the mean onset age of the CJD cases in 2009 were consistent with the general characteristics of sporadic CJD in the world.
出处
《疾病监测》
CAS
2010年第10期766-769,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)
传染病重大专项(No.2009ZX10004-101)~~
