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目的了解中国(未包括香港、澳门和台湾地区,下同)克-雅病(Creutzfeldt-Jakob disease,CJD)的发病情况、流行病学及临床特征。方法对2010年中国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。结果共发现散发型CJD确定诊断病例1例,临床诊断病例46例,疑似诊断病例25例,致死性家族型失眠症病例3例及家族型CJD病例5例(包括R208H、P102L各1例及3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。临床诊断病例平均年龄为62岁,男女性别比为1.30∶1;疑似诊断病例平均年龄为57岁,男女性别比为2.14∶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 2010年中国监测到的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的特点。
Objective To understand the incidence, epidemiology and clinical features of Creutzfeldt-Jakob disease (CJD) in China (excluding Hong Kong, Macau and Taiwan). Methods The clinical and epidemiological data of suspected CJD cases obtained from CJD monitoring network in China in 2010 were collected. Cerebrospinal fluid (CSF) and blood samples were collected from patients. Western blot was used to detect protein and cerebrospinal fluid 14-3-3 protein in PrPSc, Genomic DNA was extracted from whole blood and PCR and sequencing were used to analyze the 129 polymorphisms and gene mutations of PRNP gene. Results A total of 1 cases diagnosed as sporadic CJD, 46 cases clinically diagnosed, 25 cases suspiciously diagnosed, 3 cases fatal familial insomnia and 5 familial CJD cases (including 1 case of R208H and P102L and 3 cases of each Example T188K mutation). There is no seasonal gathering of case reports, long-term residence was scattered distribution of occupations widely distributed. The average age of clinical diagnosis was 62 years. The sex ratio was 1.30:1. The average age of suspected cases was 57 years. The sex ratio was 2.14:1. Fast dementia is the most common first symptom, accounting for 54.93% of all the cases diagnosed. Clinical diagnosis of the case than the suspected diagnosis of more typical clinical manifestations. Conclusions The main cases of CJD detected in China in 2010 are mainly sporadic types. The reporting time, long-term residence distribution, occupational distribution, sex ratio and age distribution of cases are in accordance with the characteristics of sporadic CJD.