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伴有杆状体肌病和淀粉样变肌病的单克隆丙种球蛋白病

Monoclonal gammopathy with both nemaline myopathy and amyloid myopathy.

作者信息

Wang Min, Lei Lin, Chen Hai, Di Li, Pang Mi, Lu Yan, Lu Lu, Shen Xin-Ming, Da Yuwei

机构信息

Department of Neurology, Xuan Wu Hospital, Capital Medical University, Beijing, China.

Department of Neurology, Mayo Clinic, Rochester, MN, USA.

出版信息

Neuromuscul Disord. 2017 Oct;27(10):942-946. doi: 10.1016/j.nmd.2017.05.007. Epub 2017 May 11.

Abstract

Monoclonal gammopathies due to plasma cell dyscrasias can induce diverse rare neuromuscular disorders. Deposition of monoclonal antibody light chains in skeletal muscle causes amyloid myopathy. Monoclonal gammopathy is occasionally associated with sporadic late-onset nemaline myopathy. Here we report a monoclonal gammopathy patient with both sporadic late-onset nemaline myopathy and amyloid myopathy. The diagnoses were based on immunofixation electrophoresis of urine, and serum for free light chain assay, Congo red staining and Thioflavin S staining of muscle biopsies, as well as immunohistochemical staining and electron-microscopic observation. Nemaline myopathy and amyloid myopathy can present in the same patient with monoclonal gammopathy.

摘要

浆细胞发育异常所致的单克隆丙种球蛋白病可诱发多种罕见的神经肌肉疾病。单克隆抗体轻链在骨骼肌中的沉积会导致淀粉样变肌病。单克隆丙种球蛋白病偶尔与散发性迟发性杆状体肌病相关。在此,我们报告一名患有散发性迟发性杆状体肌病和淀粉样变肌病的单克隆丙种球蛋白病患者。诊断基于尿液免疫固定电泳、血清游离轻链检测、肌肉活检的刚果红染色和硫黄素S染色,以及免疫组织化学染色和电子显微镜观察。杆状体肌病和淀粉样变肌病可在同一名单克隆丙种球蛋白病患者中出现。

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