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用于多发性硬化症及与非典型脱髓鞘疾病鉴别诊断的体液标志物。

Body fluid markers for multiple sclerosis and differential diagnosis from atypical demyelinating disorders.

作者信息

Bauer Angelika, Hegen Harald, Reindl Markus

机构信息

Clinical Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.

Institute of Hygiene and Medical Microbiology, Medical University of Innsbruck, Innsbruck, Austria.

出版信息

Expert Rev Mol Diagn. 2024 Apr;24(4):283-297. doi: 10.1080/14737159.2024.2334849. Epub 2024 Mar 27.

Abstract

INTRODUCTION

Body fluid markers could be helpful to predict the conversion into clinically definite multiple sclerosis (MS) in people with a first demyelinating event of the central nervous system (CNS). Consequently, biomarkers such as oligoclonal bands, which are integrated in the current MS diagnostic criteria, could assist early MS diagnosis.

AREAS COVERED

This review examines existing knowledge on a broad spectrum of body fluid markers in people with a first CNS demyelinating event, explores their potential to predict conversion to MS, to assess MS disease activity, as well as their utility to differentiate MS from atypical demyelinating disorders such as neuromyelitis optica spectrum disorder and myelin oligodendrocyte glycoprotein associated disease.

EXPERT OPINION

This field of research has shown a dramatic increase of evidence, especially in the last decade. Some biomarkers are already established in clinical routine (e.g. oligoclonal bands) while others are currently implemented (e.g. kappa free light chains) or considered as breakthroughs (e.g. neurofilament light). Determination of biomarkers poses challenges for continuous monitoring, especially if exclusively detectable in cerebrospinal fluid. A handful of biomarkers are measurable in blood which holds a significant potential.

摘要

引言

体液标志物可能有助于预测中枢神经系统(CNS)首次发生脱髓鞘事件的患者是否会转化为临床确诊的多发性硬化症(MS)。因此,诸如寡克隆带等生物标志物已纳入当前的MS诊断标准,可辅助MS的早期诊断。

涵盖领域

本综述考察了有关首次发生CNS脱髓鞘事件患者的广泛体液标志物的现有知识,探讨了它们预测转化为MS、评估MS疾病活动的潜力,以及它们在鉴别MS与诸如视神经脊髓炎谱系障碍和髓鞘少突胶质细胞糖蛋白相关疾病等非典型脱髓鞘疾病方面的效用。

专家观点

这一研究领域的证据显著增加,尤其是在过去十年。一些生物标志物已在临床常规中确立(如寡克隆带),而其他一些目前正在应用(如游离κ轻链)或被视为突破(如神经丝轻链)。生物标志物的测定对持续监测构成挑战,特别是如果仅在脑脊液中可检测到。少数生物标志物可在血液中测量,这具有巨大潜力。

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