中国2008年克雅氏病监测病例特征分析

目的 了解中国克雅氏病(CJD)的发病情况及流行病学、临床特征.方法 对2008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方法榆测脑脊液中是否含有14-3-3蛋白,提取全血基因组DNA并利用PCR及测序方法对脚基因进行129位多态性及基因突变分析.结果 共发现散发型CJD临床诊断病例31例,疑似诊断病例11例,2例家族性CJD和1例格-斯-斯综合征.病例的地理分布及职业无明显聚集性;临床诊断病例发病平均年龄56.7岁,男女比例8:9;疑似诊断病例发病平均年龄为57.4岁,男女比例5:6.快速进行性痴呆为最常见的首发症状,占全部诊断病例的33.3%.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 2008年中国监测到的CJD病例以散发型为主,病例的地理分布、职业、性别比例以及平均年龄均符合散发型CJD的分布特点.

Study on the characteristics of patients with Creutzfeldt-Jakob disease under 2008 surveillance data in China

Objective To describe the epidemiological and clinical characteristics of Creutzfeldt-Jakob disease (CJD) in China. Methods Clinical and epidemical data on 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 to detect 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 number of 31 probable and 11 possible sporadic CJD patients were identified. Additionally, one patient with Gerstmann-Straussler-Scheinker syndrome (GSS) and 2 familial CJD cases were identified. No geographic- or occupational-related events were observed among these cases. The mean age of onset on the probable or possible CJD patients were 56.7 and 57.4 years old, with sex ratios of the probable CJD patients as 8:9 and the possible one as 5:6 respectively. Rapid progressive dementia was the main foremost symptom, presenting in 33.3% of the CJD patients. Probable CJD patients showed more clinical manifestations than those possible ones. Conclusion Geography distribution, occupation, ratio of gender and the mean onset age of the CJD eases in 2008 were consistent with the characteristics of the sporadic CJD.