幼年皮肌炎临床特征与肌炎抗体相关性分析  

The analysis of clinical phenotypes and autoantibodies in juvenile dermatomyositis

作　　者：李冬梅 汪利 刘明月[1] 徐莉[1] 唐雪梅[1] Li Dongmei;Wang Li;Liu Mingyue;Xu Li;Tang Xuemei(Department of Rheumatology and Immunology,Children′s Hospital of Chongqing Medical University,Ministry of Education Key Laboratory of Child Development and Disorders,National Clinical Research Center for Child Health and Disorders,China International Science and Technology Cooperation Base of Child Development and Critical Disorders,Chongqing Key Laboratory of Child Infection and Immunity,Chongqing 400014,China)

机构地区：[1]重庆医科大学附属儿童医院风湿免疫科,儿童发育疾病研究教育部重点实验室,国家儿童健康与疾病临床医学研究中心,儿童发育重大疾病国家国际科技合作基地,儿童感染免疫重庆市重点实验室,400014

出　　处：《中华儿科杂志》2020年第12期966-972,共7页Chinese Journal of Pediatrics

摘　　要：目的:分析幼年皮肌炎(JDM)中肌炎抗体情况,并探讨其与临床特征的关系。方法:回顾性分析2017年1月至2020年5月重庆医科大学附属儿童医院收治的76例JDM患儿临床资料,均行肌炎抗体检测,包括肌炎特异性抗体(MSAs)及肌炎相关性抗体(MAAs)。应用Kruskal-Wallis检验和Logistics回归模型分析MSAs各抗体亚型与临床特征的关系。结果:76例JDM患儿中男39例,女37例。MSAs阳性43例(53%),其中抗核基质蛋白2(NXP2)(15/76,20%)、抗黑色素瘤分化相关基因5(MDA5)(13/76,17%)、抗转录中间因子1γ(9/76,11%)抗体为常见的3种阳性亚型。MAAs阳性20例(26%),其中抗Ro-52抗体(17/76,22%)最常见。16例(21%)患儿同时出现MAAs和MSAs抗体阳性。抗MDA5抗体阳性患儿中关节炎(9例)、发热(8例)、皮肤溃疡(5例)和巨噬细胞活化综合征(MAS)(1例)发生率在MSAs抗体各亚型中最高。吞咽困难(6例)及水肿(8例)主要发生于抗NXP2抗体阳性患儿。抗MDA5抗体阳性患儿更易发生关节炎(OR=10.636,95%CI 2.770~40.844,P=0.001)、皮肤溃疡(OR=12.500,95%CI 2.498~62.522,P=0.002)、发热(OR=5.600,95%CI 1.580~19.849,P=0.008)和肺间质病变(ILD)(OR=23.333,95%CI 4.750~114.616,P<0.01)。MSAs各亚型抗体组间肌酸激酶值不同(P<0.01),抗MDA5组肌酸激酶值明显低于抗氨酰-tRNA合成酶(P=0.03)、抗NXP2(P<0.01)、MSAs全阴性组(P=0.013)。结论:大多数JDM患儿存在肌炎自身抗体阳性,不同肌炎自身抗体与JDM的临床表现相关,开展肌炎自身抗体检测对疾病诊治有重要提示意义。抗MDA5抗体阳性患儿应警惕ILD和MAS发生。Objective To elucidate the relationship between the myositis autoantibodies and clinical phenotypes of juvenile dermatomyositis(JDM).Methods A total of 76 JDM patients admitted to the Children′s Hospital of Chongqing Medical University from January 2017 to May 2020 were tested for myositis autoantibodies,including myositis-specific autoantibodies(MSAs)and myositis-associated autoantibodies(MAAs).Kruskal-Wallis test and logistic regression were used to analyze the relationship between the antibodies and clinical characteristics.Results In the 76 cases,37 were females and 39 males.Forty-three cases(53%)were MSAs positive,among which the most common subtypes were autoantibodies against nuclear matrix protein 2(NXP2)(15/76,20%),melanoma differentiation-associated protein 5(MDA5)(13/76,17%)and transcription intermediary factor 1 gamma(9/76,11%).While 20 cases(26%)were positive for MAAs,among which anti-Ro-52 antibody(17/76,22%)was the most common subtype.Sixteen patients(21%)had both MAAs and MSAs.The incidences of arthritis(9 cases),fever(8 cases),skin ulcers(5 cases)and macrophage activation syndrome(MAS)(1 case)were significantly higher in the patients with anti-MDA5 antibody among the antibody groups.Dysphasia(6 cases)and edema(8 cases)mainly occurred in patients with anti-NXP2 antibody.Children with anti-MDA5 antibody were more likely to develop arthritis(OR=10.636,95%CI:2.770-40.844,P=0.001),skin ulcers(OR=12.500,95%CI:2.498-62.522,P=0.002),fever(OR=5.600,95%CI:1.580-19.849,P=0.008)and interstitial lung disease(ILD)(OR=23.333,95%CI:4.750-114.616,P<0.01).In the patients with different subtypes of MSAs,the creatine kinase value was significantly lower in the anti-MDA5 group than those in the anti-aminoacyl-tRNA synthetase(P=0.03),anti-NXP2(P<0.01),and MSAs-negative group(P=0.013).Conclusions Most children with JDM have positive myositis autoantibodies,and will present with different clinical phenotypes based on different autoantibodies.And children with anti-MDA5 antibodies are likely to develop ILD and MAS.Ther

关 键 词：皮肌炎 自身抗体 儿童 

分 类 号：R725.9[医药卫生—儿科]