2015年中国克雅氏病监测病例特征分析

目的 了解中国克雅氏病(Creutzfeldt-Jakob disease, CJD)的发病情况、流行病学及临床特征。方法 对2015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分析。结果 2015年共监测病例366例,其中散发型CJD临床诊断病例134例,疑似诊断病例29例,致死性家族型失眠症病例4例,吉斯特曼-斯特劳斯综合征病例1例及家族型CJD病例17例,包括11例T188K、4例E200K、1例E196K及1例E196A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。临床诊断病例平均年龄为63岁,男女性别比为1.13:1;疑似诊断病例平均年龄为60岁,男女性别比为1.64:1。快速进行性痴呆为最常见的首发症状,占全部诊断病例的36.81%。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 2015年我国监测到的CJD病例以散发型为主,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的特点。

Surveillance for Creutzfeldt-Jakob disease in China, 2015

Objective To understand epidemiological and clinical characteristics of Creutzfeldt-Jakob disease (CJD) in China. Methods The surveillance data from China CJD surveillance network were analyzed. Blood and cerebral spinal fluid (CSF) specimens from CJD patients were collected. Western Blot assay was used for detecting 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 A total of 134 probable and 29 possible sporadic CJD patients were identified. Additionally, 4 FFI cases, 1 GSS cases and 17 genetic CJD cases, including 11 T188K, 4 E200K, 1 E196K and 1 E196A mutations, were definitely diagnosed. No period, geographic or occupational related clustering was observed among these cases. The mean onset age of probable and possible CJD patients were 63 and 60 years, respectively. The male to female ratio was 1.13:1 in the probable CJD patients and 1.64:1 in the possible CJD patients. Rapidly progressive dementia was the main foremost symptom, accounting for 36.81% in the CJD patients. Probable CJD patients showed more clinical manifestations than that of the possible CJD patients. Conclusion The CJD surveillance in 2015 indicated that the period, geographic and occupation distributions, gender ratio and mean onset age of the CJD patients in China were consistent with the general characteristics of sporadic CJD in the world.