Fujikawa K, Migita K, Shigemitsu Y, Umeda M, Nonaka F, Tamai M, Nakamura H, Mizokami A, Tsukada T, Origuchi T, Yonemitsu N, Yasunami M, Kawakami A, Eguchi K
Department of Rheumatology, Japan Community Health Care Organization, Isahaya General Hospital, Isahaya, Japan.
Clin Exp Immunol. 2014 Nov;178(2):224-8. doi: 10.1111/cei.12407.
Inflammatory myopathy with abundant macrophages (IMAM) has recently been proposed as a new clinical condition. Although IMAM shares certain similarities with other inflammatory myopathies, the mechanisms responsible for this condition remain unknown. Patients with familial Mediterranean fever (FMF) and tumour necrosis factor receptor-associated periodic syndrome (TRAPS) also often develop myalgia. We therefore investigated the polymorphisms or mutations of MEFV and TNFRSF1A genes in patients with IMAM to identify their potential role in this condition. We analysed the clinical features of nine patients with IMAM and sequenced exons of the MEFV and TNFRSF1A genes. The patients with IMAM had clinical symptoms such as myalgia, muscle weakness, erythema, fever and arthralgia. Although none of the patients were diagnosed with FMF or TRAPS, seven demonstrated MEFV polymorphisms (G304R, R202R, E148Q, E148Q-L110P and P369S-R408Q), and one demonstrated a TNFRSF1A mutation (C43R). These results suggest that MEFV gene polymorphisms and TNFRSF1A mutation are susceptibility and modifier genes in IMAM.
伴有大量巨噬细胞的炎性肌病（IMAM）最近被提出作为一种新的临床病症。尽管IMAM与其他炎性肌病有某些相似之处，但导致这种病症的机制仍不清楚。家族性地中海热（FMF）和肿瘤坏死因子受体相关周期性综合征（TRAPS）患者也常出现肌痛。因此，我们研究了IMAM患者中MEFV和TNFRSF1A基因的多态性或突变，以确定它们在这种病症中的潜在作用。我们分析了9例IMAM患者的临床特征，并对MEFV和TNFRSF1A基因的外显子进行了测序。IMAM患者有肌痛、肌肉无力、红斑、发热和关节痛等临床症状。虽然没有患者被诊断为FMF或TRAPS，但7例显示MEFV多态性（G304R、R202R、E148Q、E148Q-L110P和P369S-R408Q），1例显示TNFRSF1A突变（C43R）。这些结果表明，MEFV基因多态性和TNFRSF1A突变是IMAM中的易感基因和修饰基因。
