散发性晚发性Nemaline肌病:现状。

IF 5.4 3区 材料科学 Q2 CHEMISTRY, PHYSICAL
ACS Applied Energy Materials Pub Date : 2023-11-01 Epub Date: 2023-10-19 DOI:10.1007/s11910-023-01311-0
Stefan Nicolau, Margherita Milone
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引用次数: 0

摘要

综述目的:散发性迟发性神经性肌病(SLONM)是一种罕见的成人发病、获得性肌肉疾病,可能与单克隆gammopathy或HIV感染有关。SLONM的病理学标志是肌肉纤维中的nemaline棒的积聚。我们在这里回顾关于其表现、病理生理学和管理的最新知识。最近的研究结果:SLONM通常表现为亚急性进行性近端和轴向无力,但也可以表现为类似肌营养不良的慢性进行性无力。该疾病的病理生理学仍知之甚少,有证据表明自身免疫机制和血液肿瘤。最近的研究已经确定了组织学、蛋白质组学和转录组学的改变,这些改变揭示了疾病机制,并将SLONM与遗传性原发性肌病区分开来。大多数SLONM患者对静脉注射免疫球蛋白、化疗或造血干细胞移植有反应。SLOM是一种可治疗的肌病,尽管其潜在的病因和病理机制尚不清楚。对这种疾病应保持高度怀疑,以减少SLONM的诊断延迟和治疗,并有助于将其与遗传性原发性肌病区分开来。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Sporadic Late-Onset Nemaline Myopathy: Current Landscape.

Sporadic Late-Onset Nemaline Myopathy: Current Landscape.

Purpose of review: Sporadic late-onset nemaline myopathy (SLONM) is a rare adult-onset, acquired, muscle disease that can be associated with monoclonal gammopathy or HIV infection. The pathological hallmark of SLONM is the accumulation of nemaline rods in muscle fibers. We review here current knowledge about its presentation, pathophysiology, and management.

Recent findings: SLONM usually manifests with subacutely progressive proximal and axial weakness, but it can also present with chronic progressive weakness mimicking muscular dystrophy. The pathophysiology of the disease remains poorly understood, with evidence pointing to both autoimmune mechanisms and hematological neoplasia. Recent studies have identified histological, proteomic, and transcriptomic alterations that shed light on disease mechanisms and distinguish SLONM from inherited nemaline myopathies. A majority of SLONM patients respond to intravenous immunoglobulins, chemotherapy, or hematopoietic stem cell transplant. SLONM is a treatable myopathy, although its underlying etiology and pathomechanisms remain unclear. A high degree of suspicion should be maintained for this disease to reduce diagnostic delay and treatment in SLONM and facilitate its distinction from inherited nemaline myopathies.

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来源期刊
ACS Applied Energy Materials
ACS Applied Energy Materials Materials Science-Materials Chemistry
CiteScore
10.30
自引率
6.20%
发文量
1368
期刊介绍: ACS Applied Energy Materials is an interdisciplinary journal publishing original research covering all aspects of materials, engineering, chemistry, physics and biology relevant to energy conversion and storage. The journal is devoted to reports of new and original experimental and theoretical research of an applied nature that integrate knowledge in the areas of materials, engineering, physics, bioscience, and chemistry into important energy applications.
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