庫賈氏病新式檢驗方法（RT-QuIC）初探——自製重組蛋白（rPrPC）的開發與使用

庫賈氏病（Creutzfeldt-Jakob disease）是一種致命的神經退化性疾病，診斷過程需要長期的病程觀察或穿刺性病理檢查。新式檢驗方法RT-QuIC（real-time quaking-induced conversion）的研發，可減少對病患侵入性採檢，其靈敏度和專一性也優於傳統標誌性蛋白的檢測。英、美各國等已將其納入判定為極可能個案的依據。本研究已完成自製重組普利昂蛋白（rPrPC）平臺的建立，並量製足夠之rPrPC以進行RT-QuIC測試。隨機挑取經判定為極可能與排除個案各2支腦脊髓液（CSF）檢體進行功能性測試與判定結果一致。未來擬將已判定個案之驗餘檢體回溯性測試，並與國外研究單位進行平行比對和技術交流，建立穩定成熟之RT-QuIC方法成為國內庫賈氏病常規檢驗標準。

Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disease that requires long-term observation or invasive pathological examination for diagnosis. The development of RT-QuIC (real-time quaking-induced conversion) may reduce the need for invasive sampling of patients and has better sensitivity and specificity compared to traditional protein marker methods. Positive RT-QuIC has been recognized as a laboratory criterion in the case definition for probable CJD cases in countries including the United Kingdom and the United States.
In this study, a self-made recombinant protein (rPrPC) platform capable of producing sufficient rPrPC for RT-QuIC testing was established. Cerebrospinal fluid samples from 2 probable and 2 excluded CJD cases were randomly selected for functional testing, and the results were consistent with diagnoses made by the CJD case review committee. In the future, retrospective testing will be conducted to establish a stable and validated RT-QuIC method as the standard for routine testing in CJD diagnosis.