抗黑色素瘤分化相关基因5抗体阳性皮肌炎死亡患者临床特征及治疗评估回顾性分析  

Clinical characteristics and treatment evaluation of anti-melanoma differentiation-associated protein-5 antibody-positive dermatomyositis patients with fatal outcomes:a retrospective analysis

作　　者：崔晓光[1] 杨欣[1] 任彬诚 程晓静 刘珊珊[1] 赵心蕊 田甜[1] 赵辉[1] 李学义 Cui Xiaoguang;Yang Xin;Ren Bincheng;Cheng Xiaojing;Liu Shanshan;Zhao Xinrui;Tian Tian;Zhao Hui;Li Xueyi(Department of Rheumatology and Immunology,the Second Affiliated Hospital of Xi′an Jiaotong University,Xi′an 710000,China)

机构地区：[1]西安交通大学第二附属医院风湿免疫科,西安710000

出　　处：《中华风湿病学杂志》2025年第3期204-208,共5页Chinese Journal of Rheumatology

基　　金：陕西省重点研发计划(2019SF-050)。

摘　　要：目的结合病原微生物宏基因检测(mNG3)分析抗黑色素瘤分化相关基因5(MDA5)抗体阳性皮肌炎(MDA5-DM)死亡患者临床特征,为临床治疗策略和治疗评估提供参考。方法回顾性分析2020年1月至2023年8月西安交通大学第二附属医院诊断MDA5-DM并死亡患者相关资料,其中包括临床特征和mNGS。采用Mann-Whitney U检验或Fisher确切概率法分析MDA5-DM死亡的相关因素及治疗评估情况。结果①MDA5-DM死亡患者男性比例高于女性,吸烟是男性多于女性的显著影响因素(6/11和0/7,P=0.037);②94%(17/18)死亡患者初诊铁蛋白水平(1350±942)ng/ml和CRP(47±36)mg/L明显升高;③所有患者(18/18)均存在早期肺上叶受累,受累形式包括多发结节(9/18),磨玻璃影(5/18),单发结节(4/18);④肺泡灌洗液mNGS显示巨细胞病毒(5/16)和耶氏肺孢子菌(5/16)检出率最高;⑤89%患者(16/18)无论何种治疗后持续淋巴细胞计数<0.5×10^(9)/L。结论吸烟可能对男性MDA5-DM患者造成不利影响,早发肺上叶受累在MDA5-DM死亡患者中更多见,持续淋巴细胞减低是反应不佳的重要因素,MDA5-DM需警惕巨细胞病毒及肺孢子菌感染,肺泡灌洗mNGS有助于感染鉴别,预防性治疗有助于减少感染的发生。ObjectiveThis study aims to provide insights into the clinical features of anti-melanoma differentiation-associated protein-5(MDA5)-positive dermatomyositis(MDA5-DM)patients with fatal outcomes,leveraging pathogenic microbiota metagenomic analysis,to guide the clinical assessment and treatment choices.MethodsFrom January 2020 to August 2023,deceased patients diagnosed with MDA5-DM were identified at the Department of Rheumatology and Immunology,the Second Affiliated Hospital of Xi′an Jiaotong University.Clinical data were retrospectively collected and analyzed using Mann Whitney U test and Fisher′s exact test to summarize risk factors and treatment assessment for MDA5-DM patients with fatal outcomes.Results①The proportion of male patients was higher than females among MDA5-DM patients with fatal outcomes,which differed from the incidence pattern,possibly associated with smoking and gender proportions(6/11 vs.0/7,P=0.037).②94%(17/18)patients presented initially with elevated ferritin levels[(1350±942)ng/ml]and CRP[(47±36)mg/L].③All patients(18/18)exhibited early involvement of the upper lung lobes,including multiple nodules in 9/18,ground-glass opacities in 5/18,and solitary nodules in 4/18.④Metagenomic next-generation sequencing(mNGS)of bronchoalveolar lavage fluid was negative in 4/16 cases,with cytomegalovirus and pneumocystis jirovecii being the most commonly detected pathogens in 5/16 cases each.⑤89%(16/18)of patients continued to have lymphocyte counts persistently<0.5×10^(9)/L irrespective of treatment.ConclusionSmoking may have adverse effects on male MDA5 patients.Early involvement of the upper lobe of the lungs is more common in MDA5 antibody positive deaths,and persistent lymphocyte depletion is an important factor in poor response.Enhancing mNGS analysis of bronchoalveolar lavage fluid and vigilance towards cytomegalovirusand Pneumocystis jirovecii could provide valuable clinical guidance.

关 键 词：皮肌炎 肺疾病 间质性 抗黑色素瘤分化相关基因5抗体 

分 类 号：R593.26[医药卫生—内科学]