贵州省2017-2021年克-雅病临床特征分析  

Clinical characteristics of Creutzfeldt-Jakob disease in Guizhou Province from 2017 to 2021

作　　者：吴萍 蒋维佳[1] 贺电 Wu Ping;Jiang Weijia;He Dian(Viral Disease Laboratory,Guizhou Center for Disease Control and Prevention,Guiyang 550000,Guizhou Province,China;Department of Neurology,The Affiliated Hospital of Guizhou Medical University,Guiyang 550000,Guizhou Province,China)

机构地区：[1]贵州省疾病预防控制中心病毒性疾病检验科,贵阳550000 [2]贵州医科大学附属医院神经内科,贵阳550000

出　　处：《中国基层医药》2024年第1期19-22,共4页Chinese Journal of Primary Medicine and Pharmacy

基　　金：贵州省疾病预防控制中心疾控科学(青年)技术基金(2022-E-2青)。

摘　　要：目的分析贵州省2017-2021年克-雅病(CJD)的发病情况、流行病学、临床特征,为贵州省CJD的监测提供科学依据。方法采用回顾性研究,收集贵州省9家医院报告的CJD疑似病例的流行病学及临床信息,同时结合患者脑脊液、血液、皮肤标本的实验室检测结果进行分析。结果2017年至2021年,贵州省共报告47例疑似病例,发现CJD病例22例,其中散发型CJD(sCJD)临床诊断病例18例(18/22),sCJD临床疑似病例2例(2/22),遗传型CJD(gCJD)确诊病例2例(2/22)。患者的首发症状以快速进行性痴呆为主要表现,辅助检查以头颅核磁共振成像(MRI)异常为主(16/20);脑脊液14-3-3蛋白阳性率较高(14/21),血液中朊蛋白基因(PRNP)129个氨基酸和219个氨基酸均为M/M纯合子和E/E纯合子。除2例gCJD确诊病例PRNP基因检测发现T188K、E200K突变外,其余的都没有发现突变,5例病例的皮肤朊病毒蛋白(PrPSc)呈阳性。病例的长久居住地呈散在分布,职业分布广泛,男女性别比例为13∶9,年龄中位数为64岁,主要为汉族,流行病学史未见特别之处。结论2017年至2021年,贵州省发现的CJD病例以sCJD为主,其居住地、职业、性别比例、年龄分布等均符合sCJD的发病特点。Objective To analyze the incidence,epidemiology,and clinical characteristics of Creutzfeldt-Jakob disease(CJD)in Guizhou Province from 2017 to 2021 and provide a scientific basis for monitoring of CJD in Guizhou Province.Methods In this retrospective study,epidemiological and clinical information on suspected CJD cases reported by nine hospitals in Guizhou Province was collected and analyzed based on the laboratory test results of cerebrospinal fluid,blood,and skin samples from the patients.Results From 2017 to 2021,a total of 47 patients with suspected CJD were reported in Guizhou Province,including 22 confirmed patients.Of these patients,18 patients(18/22)were clinically diagnosed with sporadic CJD,2 patients(2/22)were clinically suspected of having sCJD,and 2 patients(2/22)were confirmed to have genetic CJD.All patients primarily presented with rapid progressive dementia,and abnormal magnetic resonance imaging findings of the head are the main auxiliary examination results(16/20).The positive rate of 14-3-3 protein in cerebrospinal fluid was high(14/21).The blood sample PRNP gene testing revealed that 129 amino acids were M/M homozygous,while 219 amino acids were E/E homozygous.Except for T188K and E200K mutations detected by PRNP gene testing in 2 gCJD cases,no other site mutations were found,and 5 cases were positive for skin PrPSc.Patients'geographical distribution showed no obvious clustering.Patients have a wide range of occupations.The male-to-female ratio was 13:9,with a median age of 64 years.The majority of the patients were Han Chinese,and there was no special epidemiological history.Conclusion The majority of the confirmed CJD patients in Guizhou Province from 2017 to 2021 are sporadic CJD patients,and their residence,occupation,gender ratio,age distribution,and other characteristics are consistent with the incidence patterns of sporadic CJD.

关 键 词：克-亚综合征 疾病特征 流行病学 公共卫生监测 回顾性研究 贵州省 

分 类 号：R742[医药卫生—神经病学与精神病学]