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目的了解中国12个克雅氏病(creutzfeldt-Jakob disease,CJD)监测网络省(直辖市、自治区)克雅氏病的发病情况、流行病学及临床特征。方法对2014年我国克雅氏病监测网络获得的可疑克雅氏病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,利用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。结果发现散发型克雅氏病临床诊断病例143例(44.14%),疑似诊断病例15例(4.63%),遗传型克雅氏病病例10例(3.09%),致死性家族型失眠症8例(2.47%)。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61岁(24,81),男女性别比为1.07∶1;疑似诊断病例年龄中位数为57岁(33,76),男女性别比为1.5∶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(EEG)以及头颅磁共振成像(MRI)三项检测结果中,出现阳性结果越多的病例表现出更多的典型症状。对324份血液样品PRNP基因的检测,其中297例129位氨基酸为M/M纯合子,294例219位氨基酸为E/E纯合子。结论 2014年我国监测到的克雅氏病病例的报告时间、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氏病的发病特点。
Objective To understand the incidence, epidemiology and clinical features of Creutzfeldt-Jakob disease (CJD) surveillance network in China (municipalities and autonomous regions). Methods The clinical and epidemiological data of cases of suspected Creutzfeldt-Jakob disease obtained from China’s CJD surveillance network in 2014 were analyzed. Cerebrospinal fluid (CSF) and blood samples were collected from patients. Western blotting was used to detect 14-3-3 protein in cerebrospinal fluid (CSF) Genomic DNA was extracted from the whole blood and PCR and sequencing were used to analyze the 129th and 219th amino acid polymorphisms of PRNP gene and the gene mutation. The results showed that 143 cases (44.14%) were diagnosed as sporadic Creutzfeldt-Jakob disease, 15 cases (4.63%) were diagnosed as suspected, 10 cases were Creutzfeldt-Jakob disease (ES), 8 cases were fatal familial insomnia (2.47%). There is no seasonal gathering of case reports, long-term residence was scattered distribution of occupations widely distributed. The median age at diagnosis was 61 years (24,81). The sex ratio was 1.07: 1. The median age of suspected cases was 57 years (33,76). The sex ratio was 1.5: 1. Fast dementia is the most common first symptom. Among the three test results of cerebrospinal fluid 14-3-3 protein, electroencephalogram (EEG) and cranial magnetic resonance imaging (MRI), the more positive cases showed more typical symptoms. The blood samples of 324 samples of PRNP detection, of which 297 of 129 amino acids M / M homozygotes, 294 of 219 amino acids E / E homozygotes. Conclusions The reported time, long-term residence, occupation, sex ratio and age distribution of the cases of Creutzfeldt-Jakob Disease monitored in our country in 2014 are in line with the incidence of emanative Creutzfeldt-Jakob disease.