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首页> 外文期刊>Journal of clinical neuromuscular disease >Demyelinating Neuropathy in a Patient Treated With Revusiran for Transthyretin (Thr60Ala) Amyloidosis
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Demyelinating Neuropathy in a Patient Treated With Revusiran for Transthyretin (Thr60Ala) Amyloidosis

机译：用Revusiran进行Transthyretin（Thr60Ala）淀粉样蛋白症治疗的患者的脱髓鞘神经病变

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Transthyretin amyloidosis patients develop length-dependent peripheral neuropathy, autonomic dysfunction, and restrictive cardiomyopathy associated with deposition of amyloid fibrils in these tissues. Despite advances in management over the past decade, this disorder causes profound debilitation and ultimately proves fatal In this report, we describe a man with late-onset cardiac amyloidosis due to a transthyretin Thr60Ala mutation who was treated with an investigational RNAi therapeutic, revusiran, which targets hepatic transthyretin production. Sixteen months into treatment, he developed bilateral lower-extremity weakness and numbness, worsening balance, difficulty manipulating objects with his hands, and finger numbness. Nerve conduction studies were consistent with multifocal demyelinating neuropathy. Intravenous immunoglobulin therapy improved sensation in his hands and feet, and improved hand dexterity. A sural nerve biopsy demonstrated demyelination with substantial axonal loss in the absence of histologically detectable endoneurial amyloid deposition. This case expands the clinicopathologic spectrum of transthyretin amyloidosis and may represent complex disease and treatment effects.
机译：Transthyretin淀粉样蛋白病患者开发长度依赖性周围神经病变，自主功能障碍，以及与这些组织中淀粉样蛋白原纤维的沉积相关的限制性心肌病。尽管在过去十年中管理有所进展，但这种疾病导致深刻的衰弱，最终在本报告中证明致命，我们描述了由于促进RNAi治疗，RNAIRAN治疗的Transthyretin Thr60Ala突变而具有晚期心脏淀粉样蛋白病的男性靶向肝脏Transthyretin生产。十六个月进入治疗，他开发了双边的下肢弱点和麻木，平衡恶化，用手操纵物体，手指麻木。神经传导研究与多灶性脱髓鞘神经病变一致。静脉内免疫球蛋白疗法在手中改善了感觉，并改善了手工灵巧。血管神经活检在没有组织学检测的内牙淀粉样蛋白沉积的情况下表现出具有显着性轴突损失的脱髓鞘。这种情况扩大了Transthyretin淀粉样蛋白症的临床病理光谱，并且可以代表复杂的疾病和治疗效果。

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