Clinical Use of Improved Diagnostic Testing for Detection of Prion Disease.
Clinical Use of Improved Diagnostic Testing for Detection of Prion Disease.
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朊病毒病改良诊断试验的临床应用。
DOI：
10.3390/v13050789
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发表时间：
2021-04-28
期刊：
影响因子：
--
通讯作者：
Appleby BS
中科院分区：
文献类型：
--
作者：
Figgie MP Jr;Appleby BS
朊病毒疾病很难识别，因为许多症状与其他神经系统疾病相同，而且症状的全部谱通常直到病程晚期才出现。此外，许多常用的实验室标记物对朊病毒疾病没有特异性。最近推出的第二代实时震动诱导转换（RT-QuIC）由于其极高的敏感性和特异性，彻底改变了朊病毒疾病的死前诊断。然而，RT-QuIC不能提供预后数据，并且在一些罕见的非典型朊病毒疾病中降低了诊断准确性。本综述的目的是概述目前基于液体的生物标志物、神经诊断测试和脑成像在朊病毒疾病诊断中的临床应用，并建议其临床应用指南，重点关注具有非典型特征的罕见朊病毒疾病。基于实验室的检测和成像标准的最新进展表明，朊病毒疾病的诊断准确性和预后潜力有所提高，但由于这些诊断测试对某些朊病毒疾病亚型不敏感，而且在CWD传播给人类的情况下，诊断测试的敏感性尚不清楚，因此继续研究各种检测方式的临床应用非常重要。
Prion diseases are difficult to recognize as many symptoms are shared among other neurologic pathologies and the full spectra of symptoms usually do not appear until late in the disease course. Additionally, many commonly used laboratory markers are non-specific to prion disease. The recent introduction of second-generation real time quaking induced conversion (RT-QuIC) has revolutionized pre-mortem diagnosis of prion disease due to its extremely high sensitivity and specificity. However, RT-QuIC does not provide prognostic data and has decreased diagnostic accuracy in some rarer, atypical prion diseases. The objective of this review is to provide an overview of the current clinical utility of fluid-based biomarkers, neurodiagnostic testing, and brain imaging in the diagnosis of prion disease and to suggest guidelines for their clinical use, with a focus on rarer prion diseases with atypical features. Recent advancements in laboratory-based testing and imaging criteria have shown improved diagnostic accuracy and prognostic potential in prion disease, but because these diagnostic tests are not sensitive in some prion disease subtypes and diagnostic test sensitivities are unknown in the event that CWD transmits to humans, it is important to continue investigations into the clinical utility of various testing modalities.
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