多发性骨髓瘤合并KBTBD13相关杆状体肌病1例并文献复习

Multiple myeloma with KBTBD13-associated nemaline myopathy:a case report and literature review

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。

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. 1051 G>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.