抗黑色素瘤分化相关基因5抗体相关幼年皮肌炎临床特征和治疗随访  

Clinical features,treatment and follow up of anti-melanoma differentiation-associated gene 5 antibody associated juvenile dermatomyositis

作　　者：刘晓雪 尹晶[1] 马继军[1] 李崇巍[1] Liu Xiaoxue;Yin Jing;Ma Jijun;Li Chongwei(Department of Rheumatology&Immunology,Tianjin Children's Hospital,Tianjin 300074,China)

机构地区：[1]天津市儿童医院免疫科,300134

出　　处：《中华风湿病学杂志》2020年第11期767-771,I0003,共6页Chinese Journal of Rheumatology

摘　　要：目的总结抗黑色素瘤分化相关基因5(MDA5)抗体相关幼年皮肌炎(JDM)的临床特征,探讨其诊治方法。方法对2018年10月至2019年12月天津市儿童医院收治的5例抗MDA5相关JDM患儿的基本信息、临床表现、实验室检查、影像学资料和用药情况进行回顾性分析,并随访其转归,其中男性4例,女性1例,中位年龄4岁,起病到确诊1~7个月。结果5例均有皮损,其中面部非特异红色斑疹3例,Gottron疹/征4例,2例表现为皮肤粗糙和角化过度。甲周毛细血管炎改变5例,皮肤黏膜溃疡3例,关节受累3例,发热1例。肌力2例正常,3例轻度下降,肌酸激酶均正常,肌肉核磁和肌电图异常各4例。血清学全部为抗MDA5抗体阳性,3例伴抗Ro52阳性。5例肺计算机断层摄影(CT)均显示间质性肺病(ILD)但缺乏呼吸系统症状,血清涎液化糖链抗原(KL-6)和铁蛋白均增高。5例患者的治疗中均包括了激素和静脉免疫球蛋白。2例单独使用环磷酰胺作为免疫抑制剂完全缓解,2例难治患者采用环磷酰胺联合他克莫司方案。1例采用利妥昔单抗联合甲氨蝶呤达到完全缓解,后由于密切接触发生肺结核。结论抗MDA5相关JDM发病年龄低,肌肉损害轻,皮疹不典型,容易漏诊及合并ILD。肌炎抗体有助于诊断,肺CT、铁蛋白和KL-6综合评估治疗反应,应积极免疫抑制治疗以改善预后并注意药物不良反应。Objective To summarize the clinical features of anti-melanoma differentiation-associated gene 5(anti-MDA5)antibody associated juvenile dermatomyositis(JDM),so as to facilitate the correct diagnosis and timely treatment.Methods From October 2018 to December 2019,five children with anti-MDA5 associated JDM were admitted to our center.Among the five patients,four were male and one was female,median age was 4 years old.Their demographic,clinical,laboratory and image data,as well as the therapeutic options and outcomes were analyzed retrospectively.Results Skin lesions were seen in all patients with non-heliotrope facial erythema in three and Gottron's sign or papule in four.Coarse and hyperkeratinized skin was noted in two patients,and the skin regained smooth after treatment.Nailfold capillary changes were found in all,skin or mucosal ulcer,joint involvement and fever occurred in 3,3 and 1 respectively.Three patients had mild muscle weakness and two had normal muscle strength.Muscle MRI and electromyography were abnormal in four cases respectively,while creatine kinase level was normal in all patients.All were anti-MDA5 antibody positive with anti-Ro52 antibody in three concurrently.All patients had interstitial lung disease(ILD)confirmed by chest CT scan with elevated serum salivary glycosylated antigen(KL-6)and ferritin,but none manifested with any respiratory symptoms.Glucocorticoid and intravenous immunoglobulin were administrated to all patients.Two patients achieved complete remission of ILD with cyclophosphamide as Disease-modifying antirheumatic drugs(DMARDs)alone,and two refractory cases with cyclophosphamide and tacrolimus combined remitted partly.Complete remission was achieved in one patient by combination therapy of rituximab and methotrexate,who developed pulmonary tuberculosis after close family contact.Anti-MDA5 associated JDM usually occurs in early childhood.Diagnosis is often delayed due to mild muscle damage and atypical skin rash.The frequency of ILD is high,and myositis specific antibodies dete

关 键 词：抗黑色素瘤分化相关基因5抗体 幼年皮肌炎 肺疾病 间质性 

分 类 号：R593.26[医药卫生—内科学]