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散发性克雅氏病:大海捞针

Sporadic Creutzfeldt-Jakob Disease: Finding the Needle in the Haystack.

作者信息

Ghazanfar Auns, Pittford Alexandra, Fernando Kryshani

机构信息

Internal Medicine, University Hospital Sussex National Health Services (NHS) Foundation Trust, Chichester, GBR.

Stroke Medicine, University Hospital Sussex National Health Services (NHS) Foundation Trust, Chichester, GBR.

出版信息

Cureus. 2024 Jul 15;16(7):e64548. doi: 10.7759/cureus.64548. eCollection 2024 Jul.

Abstract

Sporadic Creutzfeldt-Jakob disease (SCJD) is a rare neurodegenerative disease with a very low prevalence. The aetiology is theorised to be genetic. Modern laboratory techniques, such as the real-time quaking-induced conversion (RT-QuIC) assay, have allowed us to diagnose CJD with greater sensitivity and specificity. Previously, the diagnosis rested primarily on a post-mortem brain biopsy. Although advancements in laboratory techniques have allowed earlier diagnosis of CJD, the treatment is still supportive. Research is still ongoing for a curative treatment, but so far, the fatality rate remains at 100%. Early vague symptoms of CJD delay the diagnosis further, as multiple pathologies need to be ruled out before consideration of the diagnosis of CJD. This case report describes a similar case of sporadic CJD diagnosed in an otherwise fit and well patient.

摘要

散发性克雅氏病(SCJD)是一种罕见的神经退行性疾病,患病率极低。其病因被认为是遗传性的。现代实验室技术,如实时光颤诱导转化(RT-QuIC)检测,使我们能够更灵敏、更特异地诊断克雅氏病。以前,诊断主要依靠死后脑活检。尽管实验室技术的进步使得克雅氏病能够更早被诊断出来,但治疗仍然只是支持性的。目前仍在进行治愈性治疗的研究,但到目前为止,死亡率仍为100%。克雅氏病早期的模糊症状进一步延误了诊断,因为在考虑诊断克雅氏病之前需要排除多种病变。本病例报告描述了一名原本健康的患者被诊断为散发性克雅氏病的类似病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c110/11322851/2fa6c871fed8/cureus-0016-00000064548-i01.jpg

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