2019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, 2019

作　　者：肖康[1] 周伟[1] 王园[1] 董小平[1] 石琦[1] Xiao Kang;Zhou Wei;Wang Yuan;Dong Xiaoping;Shi Qi(Institute for Viral Disease Prevention and Control,State Key Laboratory for Communicable Disease Prevention and Control,Chinese Center for Disease Control and Prevention,Beijing 102206,China)

机构地区：[1]中国疾病预防控制中心病毒病预防控制所,传染病预防控制国家重点实验室,北京102206

出　　处：《疾病监测》2022年第2期185-190,共6页Disease Surveillance

基　　金：传染病预防控制国家重点实验室课题(No.2021SKLID506,No.2021SKLID101,No.2019SKLID307);国家自然科学基金(No.81630062)。

摘　　要：目的 了解2019年中国克–雅病(CJD)监测网络中12个省(自治区、直辖市)的发病情况、流行病学和临床特征。方法 对我国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,采用Western blot检测脑脊液中14-3-3蛋白,提取全血基因组DNA并利用聚合酶链式反应(PCR)及测序方法对朊蛋白基因(PRNP)进行129位和219位氨基酸多态性及基因突变的分析。结果 2019年共监测CJD病例520例,其中临床诊断病例190例(36.54%),疑似诊断病例8例(1.54%),遗传型病例25例(4.81%),致死性家族型失眠症5例(0.96%),格斯特曼综合征(GSS)1例(0.19%)。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。确诊诊断和临床诊断病例年龄中位数为63(40, 84)岁,男女性别比为0.96∶1;疑似诊断病例年龄中位数为64.5(45, 76)岁,男女性别比例为1∶1。快速进行性痴呆为最常见的首发症状。508份血液样品PRNP的检测结果显示,其中491份129位氨基酸为M/M纯合子,497份219位氨基酸为E/E纯合子。结论 2019年我国监测到的CJD病例的报告时间、长久居住地、职业、性别比例以及年龄分布均符合散发型克–雅病的发病特点。Objective To describe epidemiological and clinical characteristics of the patients with Creutzfeldt-Jakob disease(CJD) in 12 provinces in China. Methods The clinical and epidemiological information of CJD patients obtained from China CJD surveillance network were 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 Polymerase Chain Reaction(PCR) and sequencing were performed by using DNA extracted from whole blood genome for the analyses on polymorphism of 129 and 219 amino acid and mutation of PRNP gene. Results In 2019, a total of 520 CJD cases were detected in the surveillance, including 190(36.54%) probable CJD cases, 8(1.54%) possible sporadic CJD cases, 25(4.81%) genetic CJD cases, 5(0.96%) fatal familial insomnia(FFI) cases and 1(0.19%) cases of Gerstmann-Straussler-Scheinker(GSS) syndrome. The cases occurred sporadically without clustering in time, place and population. The median age of diagnosed and probable CJD cases was 62 years(40–84 years old), and the male to female ratio of the cases was 0.96∶1. The median age of possible CJD cases was 64.5 years(45–76 years old), and the male to female ratio of the cases was 1∶1. Rapidly progressive dementia was the major initial symptom. Among 508 cases, 491 were M/M in allele 129, and 497 were E/E in allele 219. Conclusion CJD occurred sporadically in China in 2019. The time, place and population distributions, gender ratio and average onset age of the CJD cases were consistent with the general characteristics of sporadic CJD cases in the world.

关 键 词：克–雅病 监测 14-3-3蛋白 朊蛋白基因 头颅磁共振成像 

分 类 号：R211[医药卫生—中医学] R511