高利萍, 肖康, 周伟, 王园, 董小平, 石琦. 2020年中国克–雅病监测网络病例特征分析[J]. 疾病监测, 2022, 37(2): 160-166. DOI: 10.3784/jbjc.202105110255
引用本文: 高利萍, 肖康, 周伟, 王园, 董小平, 石琦. 2020年中国克–雅病监测网络病例特征分析[J]. 疾病监测, 2022, 37(2): 160-166. DOI: 10.3784/jbjc.202105110255
Gao Liping, Xiao Kang, Zhou Wei, Wang Yuan, Dong Xiaoping, Shi Qi. Characteristics of Creutzfeldt-Jakob disease cases reported by surveillance network in China, 2020[J]. Disease Surveillance, 2022, 37(2): 160-166. DOI: 10.3784/jbjc.202105110255
Citation: Gao Liping, Xiao Kang, Zhou Wei, Wang Yuan, Dong Xiaoping, Shi Qi. Characteristics of Creutzfeldt-Jakob disease cases reported by surveillance network in China, 2020[J]. Disease Surveillance, 2022, 37(2): 160-166. DOI: 10.3784/jbjc.202105110255

2020年中国克–雅病监测网络病例特征分析

Characteristics of Creutzfeldt-Jakob disease cases reported by surveillance network in China, 2020

  • 摘要:
      目的   了解2020年中国克–雅病(CJD)的发病情况、流行病学及临床特征。
      方法  对2020年我国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,并收集患者的血液及脑脊液,提取全血基因组DNA并利用聚合酶链式反应及测序方法对朊蛋白基因(PRNP)129位及219位氨基酸多态性进行分析,Western Blot检测脑脊液中14-3-3蛋白。
      结果   2020年共监测病例458例,其中散发型CJD临床诊断病例179例(39.08%),疑似诊断病例12例(2.62%),遗传型CJD病例18例(3.93%),吉斯特曼–施特劳斯综合征(GSS)1例(0.22%)。 病例报告无季节聚集性,长久居住地呈散在分布,职业分布无聚集性。临床诊断病例年龄中位数为63.14(43,87)岁,男女性别比为 0.97∶1;疑似诊断病例年龄中位数为68.08(54,77)岁,男女性别比为1∶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典型症状也较多。 对439份血液样品进行PRNP检测,其中129位氨基酸为M/M 纯合子的434例,M/V杂合子的3例,V/V纯合子的2例;219位氨基酸为E/E纯合子的435 例,E/K纯合子的4例。
      结论   2020年我国监测到的CJD病例的报告时间、长久居住地分布、职业、性别比例以及年龄分布均符合CJD的发病特点。

     

    Abstract:
      Objective  To investigate the incidence, epidemiology and clinical characteristics of Creutzfeldt-Jakob disease (CJD) in China in 2020.
      Methods  Clinical and epidemiological data of CJD patients obtained from the CJD surveillance network in China in 2020 were analyzed. Blood and cerebrospinal fluid of the patients were collected. The amino acid polymorphisms at 129 and 219 sites of PRNP were analyzed by PCR and DNA sequencing using extracted from whole blood genome. The 14-3-3 protein in cerebrospinal fluid was detected by Western Blot.
      Results  A total of 458 CJD cases were reported by the CJD surveillance network in 2020, in which 179 (39.08%) were probable sporadic CJD cases, 12 (2.62%) were possible cases, 18 (3.93%) were genetic CJD cases, and 1 (0.22%) was Gerstmann-Straussler-Scheinker syndrome case. Case reporting showed no seasonality, the long-term residence of the cases showed sporadic distribution, and the occupation distribution showed no clustering The median age of probable cases was 63.14 (43, 87) years, and the male-to-female ratio of the cases was 0.97∶1.The median age of possible cases was 68.08 (54, 77) years, and the male-to-female ratio of the cases was 1:1. Rapid-progressive dementia was the most common initial symptom. For the three test results of 14-3-3 protein in CSF, electroencephalogram and cranial magnetic resonance imaging, the patients with more positive results also had more typical symptoms. PRNP was detected in 439 blood samples. There were 434 cases of M/M homozygous amino acids, 3 cases of M/V heterozygous amino acids, and 2 cases of V/V homozygous amino acids at 129 position. There were 435 cases of E/E homozygous amino acids at 219 position, and 4 E/K cases of homozygous amino acids.
      Conclusion  The reporting time, distribution of long-term residence, occupation, sex ratio and age distribution of CJD cases detected in China in 2020 were all consistent with the characteristics of CJD.

     

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