Multiple myeloma with KBTBD13-associated nemaline myopathy: a case report and literature review
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摘要: 杆状体肌病是一种罕见的遗传性肌病，现报道1例多发性骨髓瘤同时合并杆状体肌病的患者。该例患者以四肢僵硬为首要表现，同时合并多发性骨髓瘤，在以硼替佐米为基础的治疗后，患者四肢僵硬进行性加重，并出现全身肌病萎缩，经基因检测发现KBTBD13基因突变，最终诊断为多发性骨髓瘤合并KBTBD13相关的杆状体肌病，因患者肌病进展迅速，诊断后不久死于呼吸衰竭。Abstract: Nemaline myopathy(NEM) is a rare inherited muscle disease and KBTBD13-associated nemaline myopathy(NEM6) caused by the mutation in KBTBD13 gene is a unique subtype of NEM. NEM6 is an autosomal dominant inherited disease, typically characterized by a slow progressive symmetric proximal muscle weakness beginning in childhood. In this report, the patient was diagnosed as NEM6 by genetic testing with the previously unreported KBTBD13 mutation site c. 1051G>T, and concomitated with multiple myeloma. After bortezomib-based treatment, the myopathy progresses rapidly and eventually died of respiratory failure, which was different from the typical NEM6.
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Key words:
- multiple myeloma /
- nemaline myopathy /
- KBTBD13 /
- bortezomib
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表 1 患者全外显子-单项检测结果
基因名称 OMIM编号 遗传方式 HG19位置 转录本 核苷酸与氨基酸改变 合子状态 人群突变率 ACMG变异分类 相关疾病/文献 KBTBD13 613727 AD chr15：65370204 NM-001101362 c.1051G>T(p.D351Y) 杂合 < 0.001 3类-意义未明 NEM6 
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