Parthiban Guru Prasad, Arivazhagan Sowbharnika, Anaji Shiva Charan, Williams Aaron
Internal Medicine, Baton Rouge General, Baton Rouge, USA.
Cureus. 2023 Jan 26;15(1):e34235. doi: 10.7759/cureus.34235. eCollection 2023 Jan.
Anti-melanoma differentiation-associated gene 5 (MDA 5) is one of the subtypes of dermatomyositis associated with rapidly progressive lung disease. MDA 5 carries a high mortality risk due to respiratory failure. The exact pathophysiology is unclear, but it is linked to genetic predisposition and viral triggers with the associated innate response and cytokine production like interleukins IL-1,6,18, tumor necrosis factor-alpha, and interferons. It is usually treated with anti-cytokines, high-dose steroids, immunosuppressants, and plasma exchange. Due to the atypical presentation and rapidity of the disease course, the diagnosis is often delayed. We report a 39-year-old female presenting with rapidly progressive lung disease secondary to an aggressive form of dermatomyositis.
抗黑色素瘤分化相关基因5(MDA 5)是与快速进展性肺病相关的皮肌炎亚型之一。由于呼吸衰竭,MDA 5具有较高的死亡风险。确切的病理生理学尚不清楚,但它与遗传易感性和病毒触发因素有关,涉及相关的先天免疫反应和细胞因子产生,如白细胞介素IL-1、6、18、肿瘤坏死因子-α和干扰素。通常采用抗细胞因子、大剂量类固醇、免疫抑制剂和血浆置换进行治疗。由于该疾病的非典型表现和病程进展迅速,诊断往往会延迟。我们报告了一名39岁女性,因侵袭性皮肌炎继发快速进展性肺病。