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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。
Objective To understand the incidence, epidemiology and clinical features of Creutzfeldt-Jakob disease (CJD) in China. Methods The clinical and epidemiological data of suspected CJD cases obtained from CJD surveillance network in China in 2015 were collected. Cerebrospinal fluid and blood samples of patients were collected. Western Blot was used to detect 14-3-3 protein in cerebrospinal fluid and genomic DNA was extracted Polymorphism and Gene Mutation Analysis of PRNP Gene by PCR and Sequencing at. Results A total of 366 cases were monitored in 2015, including 134 cases of sporadic CJD, 29 cases of suspected diagnosis, 4 cases of fatal familial insomnia, 1 case of Gistman-Strauss syndrome and 17 cases of familial CJD cases, including 11 cases of T188K, 4 cases of E200K, 1 case of E196K and 1 case of E196A 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 63 years old, the sex ratio of male to female was 1.13:1. The average age of suspected diagnosis was 60 years old, the sex ratio of male to female was 1.64:1. Fast dementia is the most common first symptom, accounting for 36.81% of all diagnosed cases. Clinical diagnosis of the case than the suspected diagnosis of more typical clinical manifestations. Conclusion The cases of CJD detected in China in 2015 were predominantly sporadic. The reporting time, long-term residence distribution, occupational distribution, sex ratio and age distribution of cases were all in accordance with the characteristics of sporadic CJD.