Kang You-Ri, Kim Kun-Hee, Nam Tai-Seung, Lee Kyung-Hwa, Kang Kyung Wook, Lee Seung-Jin, Choi Seok-Yong, Chandrasekaran Gopalakrishnan, Kim Myeong-Kyu
Department of Neurology, Chonnam National University Medical School, Chonnam National University Hospital, Gwangju, South Korea.
Department of Biomedical Sciences, Chonnam National University Medical School, Gwangju, South Korea.
Front Med (Lausanne). 2020 Nov 11;7:576436. doi: 10.3389/fmed.2020.576436. eCollection 2020.
Anti-melanoma differentiation-associated gene 5 (anti-MDA5) antibody is a myositis-specific marker detected in clinically amyopathic dermatomyositis (DM). DM with anti-MDA5 antibody can be accompanied by rapidly progressive interstitial lung disease (RP-ILD) and other autoimmune disorders. Until now, only one case of neuromyelitis optica (NMO) with anti-MDA5-positive DM has been reported worldwide, in which the patient achieved a favorable outcome with intensive immunotherapy. We report a case of NMO in a patient with anti-MDA5-positive DM complicated by ILD and rheumatoid arthritis. Our patient experienced a fulminant course of NMO, rather than RP-ILD, in the presence of hyperferritinemia, which resulted in profound neurological sequelae despite immunotherapy including rituximab.
抗黑色素瘤分化相关基因5（抗MDA5）抗体是在临床无肌病性皮肌炎（DM）中检测到的一种肌炎特异性标志物。伴有抗MDA5抗体的DM可伴有快速进展性间质性肺病（RP-ILD）和其他自身免疫性疾病。到目前为止，全球仅报道了1例抗MDA5阳性DM合并视神经脊髓炎（NMO）的病例，该患者通过强化免疫治疗取得了良好疗效。我们报告1例抗MDA5阳性DM合并ILD和类风湿关节炎的NMO患者。我们的患者在存在高铁蛋白血症的情况下经历了暴发性NMO病程，而非RP-ILD，尽管接受了包括利妥昔单抗在内的免疫治疗，但仍导致了严重的神经后遗症。
