2016年中国克-雅病监测网络病例特征分析

目的了解2016年中国克–雅病（CJD）监测网络中12个省份的发病情况、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，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并利用聚合酶链式反应（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2016年共监测CJD病例449例，其中散发型临床诊断病例159例（35.41%），疑似诊断病例19例（4.23%），遗传型病例15例（3.34%），致死性家族型失眠症5例（1.11%），格斯特曼综合征（GSS）3例（0.67%），以及R148H基因携带者1例（0.22%）。 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（18～87）岁，男女性别比为1.13∶1；疑似诊断病例年龄中位数为59（39～77）岁，男女性别比为2.60∶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、脑电图以及头颅磁共振成像3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429份血液样品PRNP基因的检测，其中420例129位氨基酸为M/M纯合子，421例219位氨基酸为E/E纯合子。结论2016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CJD的发病特点。

Characteristics of patients with Creutzfeldt-Jakob disease in China, 2016

ObjectiveTo describe epidemiological and clinical characteristics of the patients with Creutzfeldt-Jakob disease (CJD) in 12 provinces in China.MethodsThe clinical and epidemiological information of CJD patients obtained from China CJD surveillance network was 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 and sequencing were performed by using DNA extracted from whole blood genome for the analyses of polymorphism of 129 and 219 amino acid and mutation of PRNP gene.ResultsIn 2016, a total of 449 CJD cases were detected in surveillance, including 159 probable CJD cases (35.41%), 19 possible sporadic CJD cases (4.23%), 15 genetic CJD cases (3.34%), 5 fatal familial insomnia (FFI) cases (1.11%), 3 cases of Gerstmann-Straussler-Scheinker (GSS) syndrome (0.67%) and 1 R148H gene carrier (0.22%). The cases occurred sporadically without clustering in time, place and population. The median age of probably CJD cases was 61 years (18-87 years old), and the male to female ratio of the cases was 1.13∶1. The median age of possible CJD cases was 59 years (39-77 years old), and the male to female ratio of the cases was 2.60∶1. Rapidly progressive dementia was the major initial symptom. The probable CJD cases with more positive results in electroencephalogram, magnetic resonance imaging and detection of 14-3-3 protein in CSF showed more typical clinical symptoms. Among 429 cases, 420 were M/M in allele 129, and 421 were E/E in allele 219.ConclusionCJD occurred sporadically in China in 2016. 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.