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乙酰胆碱受体抗体、肌肉特异性酪氨酸激酶抗体和低密度脂蛋白受体相关蛋白 4 抗体共存:来自印度次大陆的一种罕见且独特的重症肌无力亚型。

Anti-AChR, MuSK, and LRP4 antibodies coexistence: A rare and distinct subtype of myasthenia gravis from Indian subcontinent.

机构信息

Department of Neuromicrobiology, National Institute of Mental Health and Neurosciences, Hosur Road, Bangalore, 560029, India.

Department of Neurology and Clinical Neurosciences, National Institute of Mental Health and Neurosciences, Hosur Road, Bangalore, 560029, India.

出版信息

Clin Chim Acta. 2018 Nov;486:34-35. doi: 10.1016/j.cca.2018.07.011. Epub 2018 Jul 10.

Abstract

BACKGROUND

Myasthenia gravis is B-cell mediated autoimmune disease and is associated with antibodies against the acetylcholine receptor (AChR), muscle-specific kinase (MuSK) and lipoprotein-related protein 4 (LRP4) in the postsynaptic membrane at the neuromuscular junction. There are few studies on the concurrent presence of two positive antibodies in the sera of patients with myasthenia gravis.

CASE DESCRIPTION

A 32-year male admitted to the hospital with progressive neuromuscular weakness. He was diagnosed with Myasthenia gravis disorder mimicking Amyotrophic Lateral Sclerosis. We herein report a rare co-existence of three antibodies (anti-AChR, MuSK, and LRP4 antibodies) in the patient's serum.

CONCLUSION

We present a detailed clinical and laboratory analysis of the patient. This case report will emphasize the importance of evaluating anti-MuSK and anti-LRP4 antibodies even in patients with anti-AChR antibodies.

摘要

背景

重症肌无力是 B 细胞介导的自身免疫性疾病,与神经肌肉接头突触后膜上的乙酰胆碱受体 (AChR)、肌肉特异性激酶 (MuSK) 和脂蛋白相关蛋白 4 (LRP4) 抗体有关。重症肌无力患者血清中同时存在两种阳性抗体的研究较少。

病例描述

一名 32 岁男性因进行性神经肌肉无力入院。他被诊断为肌萎缩侧索硬化症样重症肌无力障碍。我们在此报告了一种罕见的患者血清中同时存在三种抗体(抗 AChR、MuSK 和 LRP4 抗体)的情况。

结论

我们对患者进行了详细的临床和实验室分析。本病例报告将强调即使在抗 AChR 抗体阳性的患者中,评估抗 MuSK 和抗 LRP4 抗体的重要性。

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