中国2013年克雅氏病监测网络病例特征分析

目的了解中国(未包括香港、澳门和台湾地区,以下同)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2013年我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方法检测脑脊液中14-3-3蛋白,提取全血基因组DNA并利用聚合酶链反应(PCR)及测序方法对PRNP基因进行129位和219位氨基酸多态性及基因突变的分析。结果发现散发型克雅氏病临床诊断病例116例(38.80%),疑似诊断病例25例(8.36%),遗传型克雅氏病病例9例(3.01%),致死性家族型失眠症(FFI)3例(1.00%)。病例报告无季节聚集性,长期居住地呈散在分布,职业分布广泛。临床诊断病例平均年龄为61岁(32,86),男女性别比为0.87∶1;疑似诊断病例平均年龄为53岁(21,78),男女性别比为0.79∶1。快速进行性痴呆为最常见的首发症状。临床诊断病例中,同时出现3种及以上典型临床表现的病例所占比例比疑似诊断病例要高。脑脊液14-3-3蛋白、脑电图EEG以及头颅磁共振成像(MRI)3项检测结果中,出现阳性结果越多的病例表现出更多的典型症状。对283份血液样品PRNP基因的检测,其中278例129位氨基酸为M/M纯合子,277例219位氨基酸为E/E纯合子。结论 2013年我国监测到的克雅氏病病例的报告时间、长期居住地、职业、性别比例以及年龄分布均符合散发型克雅氏病的发病特点。临床诊断病例表现出更多的典型症状和阳性检测结果。

Characteristics of patients with Creutzfeldt-Jakob disease in China,2013

Objective To describe epidemiological and clinical characteristics of the patients with Creutzfeldt-Jakob disease （CJD） in the mainland of China. Methods The clinical and epidemical information of CJD patients obtained from China CJD surveillance network was analyzed. Blood and cerebral spinal fluid （CSF） specimens were collected from these patients. Western blot assay was conducted for detecting 14-3-3 protein in CSF, and PCR and sequencing were performed for analyzing the polymorphism of 129 and 219 amino acid and mutation of PRNP gene. Results A total of 116 probable CJD cases （38.80%） , 25 possible CJD cases （8.36%）, 9 genetic CJD cases （3.01%）, 3 fatal familial insomnia （FFI） cases （1.00%） were identified. The cases occurred sporadically without clustering in time, place and population distributions. The mean age of probably CJD patients was 61 years （32, 86）, the male to female ratio was 0. 87： 1. The mean age of possible CJD patients was 53 years （21, 87）, the male to female ratio was 0. 79： 1. Rapidly progressive dementia was the major initial symptom. The proportion of probable CJD cases to have more than three typical clinical manifestations was higher than that of possible CJD cases. The probable CJD cases with more positive results in EEG, MRI and detection of 14-3-3 protein in CSF showed more typical clinical symptoms. Among 283 cases, the codon 129 alleles of 278 was M/M, the codon 219 alleles of 277 was E/E. Conclusion CJD occurred sporadically in China in 2013. The time and place and population and distributions, gender ratio and the average onset age of the CJD cases were consistent with the general characteristics of sporadic CJD cases in the world. Probable CJD cases with more positive test results showed more typical clinical symptoms.