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陈忠云.克-雅病的诊断和治疗进展[J].内科急危重症杂志,2025,31(6):510-515
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| DOI：10.11768/nkjwzzzz20250605 |
| 中文关键词: 克-雅病 朊蛋白病 诊断 治疗 |
| 英文关键词: |
| 基金项目:北京市医院管理中心“扬帆3.0”诊疗能力提升项目（ZLRK202515）；高层次公共卫生技术人才建设项目（领军人才-03-03）；首都卫生发展科研专项（2024-2-2018） |
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| 摘要点击次数: 7 |
| 全文下载次数: 8 |
| 中文摘要: |
| 摘要 克-雅病作为一种进展迅速、目前尚无治愈手段的致死性神经退行性疾病，其诊断与治疗长期面临极大挑战。近年来，全球在早期诊断和潜在干预策略方面不断取得突破。以实时震荡诱导转化反应（RT-QuIC）为代表的新型技术显著提升了对致病型朊蛋白（PrPSc）的识别敏感度与特异性，推动诊断向精准化和无创化方向发展。在治疗领域，免疫干预、基因调控、靶向蛋白降解、干细胞移植及代谢通路调控等多种策略在动物模型中显示出延缓病程的潜力。尽管当前尚无获批的有效疗法，但联合多靶点、跨机制的干预策略为未来的精准治疗带来了希望。我国在本土化诊断标准制定和精准诊断方面已取得积极进展，未来仍需在转化医学、药物研发及国际协同等方面持续发力，推动潜在干预策略从机制探索加速迈向临床转化。 |
| 英文摘要: |
| Abstract Creutzfeldt-Jakob disease (CJD), a rapidly progressive and currently incurable fatal neurodegenerative disorder, has long faced significant challenges in both diagnosis and treatment. In recent years, global research has made substantial advances in early diagnosis and potential therapeutic strategies. Emerging technologies such as real-time quaking-induced conversion (RT-QuIC) have significantly improved the sensitivity and specificity for detecting prion protein scrapie（PrPSc）, driving diagnostic approaches toward greater precision and less invasiveness. In terms of treatment, strategies including immunotherapy, gene regulation, targeted protein degradation, stem cell transplantation, and metabolic pathway modulation have shown potential to slow disease progression in animal models. Although no effective therapy has been approved to date, multi-targeted and cross-mechanistic approaches offer promising prospects for future precision medicine. China has made notable progress in developing localized diagnostic guidelines and improving diagnostic accuracy. Moving forward, continued efforts in translational research, drug development, and international collaboration are essential to accelerate the transition of potential therapeutic strategies from mechanistic exploration to clinical application. |
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