Creutzfeldt-Jakob disease surveillance in Australia: update to 31 December 2019.
Creutzfeldt-Jakob disease surveillance in Australia: update to 31 December 2019.
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澳大利亚克雅氏病监测：更新至 2019 年 12 月 31 日。
DOI：
10.33321/cdi.2020.44.56
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发表时间：
2019
影响因子：
2.5
通讯作者：
S. Collins
中科院分区：
文献类型：
--
作者：
C. Stehmann;Matteo Senesi;S. Sarros;A. McGlade;Marion Simpson;G. Klug;C. Mclean;C. Masters;S. Collins
澳大利亚国家克雅氏病登记处（ANCJDR）负责对克雅氏病和其他人类朊病毒疾病进行全国范围的监测。国家监测涵盖1970年1月1日以来的时期，前瞻性监测从1993年10月1日开始。在这一前瞻性监测期间，在以下方面取得了相当大的进展：死前诊断;新疾病亚型的划分;以及医疗机构对朊病毒疾病的认识提高。国家司法和刑事司法委员会的监督做法也相应地发生了变化和调整。本报告总结了ANCJDR在2019年的活动。自ANCJDR于1997年9月开始在澳大利亚提供诊断性脑脊液（CSF）14-3-3蛋白检测以来，每年转诊人数稳步增加。2019年，共转诊513份国内脑脊液标本进行14-3-3蛋白检测，85名疑似人朊病毒病患者正式加入国家登记册。截至2019年12月31日，85例疑似病例中有不到一半（42例）仍被归类为“不完整”; 16例病例通过详细的临床随访（3例）或神经病理学检查（13例）被排除; 20例病例被归类为“明确”，7例被归类为“可能”朊病毒病。2019年，澳大利亚所有疑似人类朊病毒病相关死亡中有63%接受了神经病理学检查。未发现变异型或医源性CJD病例。两个可能的因果新朊病毒蛋白基因（PRNP）序列变异被确定。
Nationwide surveillance of Creutzfeldt-Jakob disease and other human prion diseases is performed by the Australian National Creutzfeldt-Jakob Disease Registry (ANCJDR). National surveillance encompasses the period since 1 January 1970, with prospective surveillance occurring from 1 October 1993. Over this prospective surveillance period, considerable developments have occurred in pre-mortem diagnostics; in the delineation of new disease subtypes; and in a heightened awareness of prion diseases in healthcare settings. Surveillance practices of the ANCJDR have evolved and adapted accordingly. This report summarises the activities of the ANCJDR during 2019. Since the ANCJDR began offering diagnostic cerebrospinal fluid (CSF) 14-3-3 protein testing in Australia in September 1997, the annual number of referrals has steadily increased. In 2019, 513 domestic CSF specimens were referred for 14-3-3 protein testing and 85 persons with suspected human prion disease were formally added to the national register. As of 31 December 2019, just under half (42 cases) of the 85 suspect case notifications remain classified as 'incomplete'; 16 cases were excluded through either detailed clinical follow-up (3 cases) or neuropathological examination (13 cases); 20 cases were classified as 'definite' and seven as 'probable' prion disease. For 2019, sixty-three percent of all suspected human prion disease related deaths in Australia underwent neuropathological examination. No cases of variant or iatrogenic CJD were identified. Two possibly causal novel prion protein gene (PRNP) sequence variations were identified.