贵州省2010-2015年克-雅病病例监测结果分析

目的 分析2010-2015年贵州省克-雅病(Creutzfeldt-Jakob disease,CJD)监测病例流行病学、临床特征、以及病例转归情况.方法 对贵州省克-雅病监测网络发现的疑似病例的流行病学、临床特征以及随访资料进行分析,同时结合病例脑脊液、血液标本的实验室检测结果.结果 2010-2015年贵州省报告的23例CJD疑似病例中发现CJD病例11例,其中sCJD临床诊断病例8例,sCJD临床疑似病例2例,gCJD确诊诊断病例1例.11例病例中,首发症状以快速进行性痴呆为主要表现,其次是精神症状、锥体外系症状、小脑症状和皮质性失明;临床症状中进行性痴呆为主要症状,其次是视觉或小脑障碍、肌阵挛、锥体系/锥体外系功能异常、无动性缄默;辅助检查以头颅核磁共振(MRI)异常为主(45.45％);实验室检测脑脊液14-3-3蛋白阳性率较高(70％),血液标本中朊蛋白基因(PRNP)检测129位氨基酸多态性均为M/M型,除1例gCJD确诊诊断病例PRNP基因检测发现D178N突变外,均未发现其它位点突变.11例CJD病例无季节、地区聚集性和职业倾向,以男性为主,年龄中位数在65岁,主要为汉族.流行病学史无特殊.对所有CJD病例在报告当年进行随访,失访率27％,大多数病例均在1年内死亡.结论 2010-2015年贵州省CJD病例中以sCJD为主,其流行病学特征与同期全国监测情况相符.首次在贵州省发现1例gCJD病例,其PRNP基因突变与2011-2014年全国CJD监测网络发现的gCJD突变位点均不相同,与河南2011-2013年间报告的2例遗传型朊蛋白病病例在临床表现及PRNP基因突变位点相似.

Surveillance of Creutzfeldt-Jakob diseases cases in Guizhou Province,China, 2010-2015

We analyze the epidemiology,clinical features,and outcome of the patients with Creutzfeldt-Jakob diseases (CJD) in Guizhou Province from 2010 to 2015.The epidemiology,clinical characteristics and follow-up data of CJD suspected patients obtained from Guizhou CJD surveillance network were analyzed.The testing results of cerebrospinal fluid (CFS) and blood from the patients were also collected and analyzed.Results showed that a total of 11 CJD cases was found from 23 reported CJD suspected patients in Guizhou from 2010 to 2015,including 8 probable sporadic CJD(sCJD) cases,2 possible sCJD cases and 1 genetic CJD(gCJD) case.In 11 cases,rapidly progressive dementia was the major initial symptom,following by mental symptoms,extrapyramidal symptoms,signs and cerebellum cortical blindness.Clinical symptoms of progressive dementia were the main symptoms,following by visual or cerebellar dysfunction,myoclonus,cone system/extrapyramidal dysfunction,and akinetic mutism.Most of cases were abnormal in MRI (45.45％) and 14-3-3 protein detection in CSF(70％).The 14-3-3 blood samples of prion gene 129 amino acids (PRNP)polymorphisms were M/M type,excepting for 1 case gCJD confirmed diagnosis cases with D178N mutation in PRNP gene.Eleven CJD cases did not show season and regional clusterings and vocational tendency.The majority of the cases were male,the median age was 65,and mainly were the Han nationality.For all cases of CJD reported during that year for follow-up,the lost-tofollow-up rate was 27％,and the majority of cases died within one year.The sCJD cases were the majority in CJD cases of Guizhou Province,2010-2015.The epidemiological characteristics were similar to the national monitoring cases in the same period.