2017年中国克–雅病监测网络病例特征分析

Characteristics of patients with Creutzfeldt-Jakob disease in China,2017

目的了解2017年中国克–雅病(CJD)的发病情况、流行病学及临床特征。方法通过我国CJD监测网络收集可疑CJD患者的脑组织、脑脊液及血液样品,利用免疫组织化学检测脑组织中的病原PrPSc,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位和219位氨基酸多态性及基因突变的分析,同时对病例的临床及流行病学资料进行分析。结果发现散发型CJD确诊病例1例(0.20%),临床诊断病例224例(44.44%),疑似诊断病例14例(2.78%),不支持诊断病例232例(46.03%),遗传型病例20例(3.97%),致死性家族型失眠症10例(1.98%),吉斯特曼–施特劳斯综合征(GSS)3例(0.60%)。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。临床诊断病例年龄中位数为62(33,91)岁,男女性别比为1.06∶1;疑似诊断病例年龄中位数为65(40,81)岁,男女性别比为1∶1。快速进行性痴呆为最常见的首发症状。脑脊液14-3-3蛋白、脑电图以及头颅磁共振成像3项检测结果中,出现阳性结果越多的病例典型症状也较多。对478份血液样品进行PRNP基因检测,其中472例129位氨基酸为M/M纯合子,470例219位氨基酸为E/E纯合子。截至2018年9月30日,对2017年散发型CJD临床诊断病例、遗传型CJD病例、致死性家族型失眠症病例、GSS患者的生存时间统计均符合国际CJD病程特点。结论 2017年我国监测到的CJD病例的报告时间、长久居住地分布、职业、性别比例以及年龄分布均符合CJD的发病特点。

Objective To describe epidemiological and clinical characteristics of patients with Creutzfeldt-Jakob disease(CJD) patients in 12 provinces in China in 2017.Methods The clinical and epidemiological information of CJD patients obtained from China CJD surveillance network were analyzed.Brain tissue,blood and/or cerebral spinal fluid(CSF) specimens were collected from these patients.Immunohistochemistry study was applied to detect cerebral pathogen PrPSc,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 1 definite CJD cases(0.20%),224 probable CJD cases(44.44%) and 14 possible CJD cases(2.78%),20 genetic CJD cases(3.97%),10 fatal familial insomnia(FFI) cases(1.98%),and 3 GSS cases(0.60%) were identified.The cases occurred sporadically without clustering in time,place and population distributions.The median age of probable CJD patients was 62 years(33,91 years old),the ratio of male to female was 1.06∶1.The median age of possible CJD patients was 65 years(40,81 years old),the ratio of male to female was1∶1.Rapidly progressive dementia was the major initial symptom.The probable CJD cases with more positive results in electroencephalogram(EEG),MRI and detection of 14-3-3 protein in CSF showed more typical clinical symptoms.Among478 cases,472 were M/M in allele 129,and 470 were E/E in allele 219.As of September 30,2018,the analysis results of the survival time of probable sporadic CJD cases,genetic CJD cases,FFI cases and GSS cases in 2017 were consistent with the features of the reported clinical course of CJD worldwide.Conclusion CJD occurred sporadically in China in 2017.The time,place and population distributions,gender ratio and the average onset age of the CJD cases were consistent with the general characteristics of CJD cases in the world.