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目的:分析抗黑色素瘤分化相关基因蛋白5(MDA5)抗体阳性幼年皮肌炎(JDM)患儿的临床特点。方法:回顾性分析2016年1月至2019年1月于首都儿科研究所附属儿童医院风湿免疫科住院的11例抗MDA5抗体阳性JDM患儿的临床资料，分析其临床特点，总结治疗经验。结果:11例抗MDA5抗体阳性JDM患儿中，男2例，女9例；起病年龄为1~13(5.8±4.2)岁；常见临床表现为皮疹11例(100.0%)、关节炎5例(45.5%)、肌无力4例(36.4%)；实验室检查10例(90.9%)肌酶升高，9例(81.8%)血清铁蛋白(SF)升高；肺部高分辨CT发现10例(90.9%)存在肺间质病变(ILD)，CT主要表现为双肺胸膜下区磨玻璃影，肺功能表现为限制性通气功能障碍及弥散功能降低；患儿均给予糖皮质激素联合免疫抑制剂治疗，其中例2发展为快速进展性肺间质疾病(RPILD)，2个月后死于呼吸衰竭，余患儿随访1~2年，病情缓解，ILD好转。结论:本组抗MDA5抗体阳性JDM患儿均有典型皮疹，肌力下降不明显，易伴关节炎。此类患儿易合并ILD，其肺部高分辨CT主要表现为双肺胸膜下区磨玻璃影，肺功能主要表现为限制性通气功能障碍及弥散功能降低。ILD进展通常伴随SF升高。糖皮质激素联合免疫抑制剂对JDM合并ILD有效。JDM合并RPILD尚无有效治疗方法，死亡率高。“,”Objective:To clarity the clinical features of juvenile dermatomyositis (JDM) with positive anti-melanoma differentiation associated gene 5 (MDA5) antibody.Methods:Retrospective study.Clinical data of 11 anti-MDA5 autoantibody-positive JDM patients in the Department of Rheumatology and Immunology, Children′s Hospital Affiliated to Capital Institute of Pediatrics from January 2016 to January 2019 were retrospectively recruited for analyzing their clinical characteristics, pulmonary imaging and pulmonary function, thus summarizing treatment experiences.Results:A total of 11 children with anti-MDA5 autoantibody-positive JDM were recruited, involving 2 males and 9 females, with the average onset age of 1-13 (5.8±4.2) years.Clinical manifestations included rash in 11 cases (100.0%), arthritis in 5 cases (45.5%), and myasthenia in 4 cases (36.4%). Muscle enzyme elevated in 10 cases (90.9%) and serum ferritin (SF) elevated in 9 patients (81.8%). Ten cases (90.9%) showed interstitial lung disease (ILD), manifesting as ground glass opacity at subpleural area on CT scans, restrictive ventilation and decreased diffusion function on lung function test, while respiratory symptoms were absent.All patients were treated with glucocorticoid combined with immunosuppressor.Case 2 developed into rapid progressive pulmonary interstitial disease (RPILD), and died of respiratory failure 2 months later.The remaining was followed up for 1-2 years, and the ILD was relieved.Conclusions:All recruited children with anti-MDA5 autoantibody-positive JDM presented typical rash, and mild muscle weakness with a greater tendency to arthritis.Chinese pediatric patients are prone to complicate with ILD with no respiratory symptoms, but ground glass opacity at subpleural area on CT, and restrictive ventilation and decreased diffusion function on lung function test can be detected.Elevated SF is associated with the development of ILD.Glucocorticoid combined with immunosuppressive therapy is effective to JDM with ILD, but ineffective for RPILD.The mortality of anti-MDA5 autoantibody-positive JDM is high without an effective treatment.