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作 者:徐静文[1] 焉传祝[1] Xu Jingwen;Yan Chuanzhu(Department of Neurology,Qilu Hospital of Shandong University,Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases,Jinan 250012,China)
机构地区:[1]山东大学齐鲁医院神经内科、山东省罕见病线粒体医学重点实验室,济南250012
出 处:《中华神经科杂志》2025年第2期119-122,共4页Chinese Journal of Neurology
摘 要:系统性淀粉样变性是一种由错误折叠蛋白沉积引起的疾病,常影响多个器官,包括心脏、肾脏等。淀粉样变性肌病是其中一种表现,但一直被认为是罕见的。然而,近来有研究发现,在既无肌无力症状也无肌酸激酶升高的患者中,其骨骼肌也存在淀粉样物质沉积,表明骨骼肌受累可能被低估。目前,“淀粉样肌病”缺乏明确诊断标准,骨骼肌内淀粉样物质沉积并不总是伴随肌病症状,因此“骨骼肌淀粉样变性”可能是更合适的诊断。骨骼肌内淀粉样物质沉积引起肌肉损伤的确切机制尚不明确,可能涉及淀粉样物质累及范围、淀粉样变性周围神经病以及免疫激活等因素。Systemic amyloidosis is a disease caused by the deposition of misfolded proteins that often affects multiple organs,including the heart and kidneys,etc.Amyloid myopathy is one of the manifestations,but it has been considered rare.However,recent studies have found amyloid deposition in skeletal muscle even in patients with neither muscle weakness nor creatine kinase elevation,suggesting that skeletal muscle involvement may be underestimated.At present,"amyloid myopathy"lacks clear diagnostic criteria,and amyloid deposition in skeletal muscle does not always accompany myopathy symptoms,so"skeletal muscle amyloidosis"may be a more appropriate diagnosis.The exact mechanism of muscle injury caused by amyloid deposition in skeletal muscle is not clear,and may be involved in the scope of amyloid involvement,amyloidosis peripheral neuropathy,and immune activation.
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