本文選題：克-雅病 + 監(jiān)測(cè)　； 參考：《中國人獸共患病學(xué)報(bào)》2017年05期

【摘要】：目的分析2010-2015年貴州省克-雅病(Creutzfeldt-Jakob disease,CJD)監(jiān)測(cè)病例流行病學(xué)、臨床特征、以及病例轉(zhuǎn)歸情況。方法對(duì)貴州省克-雅病監(jiān)測(cè)網(wǎng)絡(luò)發(fā)現(xiàn)的疑似病例的流行病學(xué)、臨床特征以及隨訪資料進(jìn)行分析,同時(shí)結(jié)合病例腦脊液、血液標(biāo)本的實(shí)驗(yàn)室檢測(cè)結(jié)果。結(jié)果 2010-2015年貴州省報(bào)告的23例CJD疑似病例中發(fā)現(xiàn)CJD病例11例,其中sCJD臨床診斷病例8例,sCJD臨床疑似病例2例,gCJD確診診斷病例1例。11例病例中,首發(fā)癥狀以快速進(jìn)行性癡呆為主要表現(xiàn),其次是精神癥狀、錐體外系癥狀、小腦癥狀和皮質(zhì)性失明;臨床癥狀中進(jìn)行性癡呆為主要癥狀,其次是視覺或小腦障礙、肌陣攣、錐體系/錐體外系功能異常、無動(dòng)性緘默;輔助檢查以頭顱核磁共振(MRI)異常為主(45.45%);實(shí)驗(yàn)室檢測(cè)腦脊液14-3-3蛋白陽性率較高(70%),血液標(biāo)本中朊蛋白基因(PRNP)檢測(cè)129位氨基酸多態(tài)性均為M/M型,除1例gCJD確診診斷病例PRNP基因檢測(cè)發(fā)現(xiàn)D178N突變外,均未發(fā)現(xiàn)其它位點(diǎn)突變。11例CJD病例無季節(jié)、地區(qū)聚集性和職業(yè)傾向,以男性為主,年齡中位數(shù)在65歲,主要為漢族。流行病學(xué)史無特殊。對(duì)所有CJD病例在報(bào)告當(dāng)年進(jìn)行隨訪,失訪率27%,大多數(shù)病例均在1年內(nèi)死亡。結(jié)論 2010-2015年貴州省CJD病例中以sCJD為主,其流行病學(xué)特征與同期全國監(jiān)測(cè)情況相符。首次在貴州省發(fā)現(xiàn)1例gCJD病例,其PRNP基因突變與2011-2014年全國CJD監(jiān)測(cè)網(wǎng)絡(luò)發(fā)現(xiàn)的gCJD突變位點(diǎn)均不相同,與河南2011-2013年間報(bào)告的2例遺傳型朊蛋白病病例在臨床表現(xiàn)及PRNP基因突變位點(diǎn)相似。
[Abstract]:Objective to analyze the surveillance of case epidemiology, clinical characteristics and outcome of Creutzfeldt-Jakob disease (CJDD) in Guizhou Province from 2010 to 2015.Methods Epidemiology, clinical features and follow-up data of suspected cases found by KYD surveillance network in Guizhou province were analyzed. The laboratory results of cerebrospinal fluid and blood samples were also analyzed.Results from 2010 to 2015, 11 cases of CJD were found in 23 suspected cases of CJD in Guizhou Province, including 8 cases of clinical diagnosis of sCJD and 2 cases of suspected cases of sCJD.The first symptoms were rapid progressive dementia, followed by mental symptoms, extrapyramidal symptoms, cerebellar symptoms and cortical blindness; progressive dementia was the main symptom in clinical symptoms, followed by visual or cerebellar disorders, myoclonus,The function of the pyramidal / extrapyramidal system was abnormal, and there was no dynamic silence.The main auxiliary examinations were cranial MRI MRI abnormality 45.455.The positive rate of 14-3-3 protein in cerebrospinal fluid (CSF) was higher than 70% in laboratory, and the amino acid polymorphism at position 129 in blood samples was all M / M type, and the positive rate of 14-3-3 protein in cerebrospinal fluid (CSF) was higher than that in control group (P < 0.05).Except for the D178N mutation found in the PRNP gene of one diagnosed case with gCJD, no other locus mutation was found. 11 cases of CJD were not seasonal. The regional clustering and occupational tendency were mainly male, the median age was 65 years old, mainly Han nationality.There is no special history of epidemiology.All cases of CJD were followed up in the reporting year, the missing rate was 27%, and most of the cases died within 1 year.Conclusion sCJD is the main CJD case in Guizhou province from 2010 to 2015, and its epidemiological characteristics are consistent with the national surveillance in the same period.A case of gCJD was first found in Guizhou Province. The mutation of PRNP gene was different from that of gCJD mutation found by the National CJD Surveillance Network in 2011-2014.The clinical manifestations and PRNP gene mutation sites of two cases of hereditary prion disease reported from 2011 to 2013 in Henan Province were similar.
【作者單位】： 貴州省疾病預(yù)防控制中心傳防所;貴州省醫(yī)科大學(xué)附屬醫(yī)院神經(jīng)內(nèi)科;貴州省第二人民醫(yī)院神經(jīng)內(nèi)科;貴州省人民醫(yī)院神經(jīng)內(nèi)科;
【分類號(hào)】：R181.8;R511
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本文編號(hào)：1755597