The myositis autoantibody phenotypes of the juvenile idiopathic inflammatory myopathies.
The myositis autoantibody phenotypes of the juvenile idiopathic inflammatory myopathies.
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DOI：
10.1097/md.0b013e31829d08f9
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发表时间：
2013-07
期刊：
影响因子：
1.6
通讯作者：
Childhood Myositis Heterogeneity Collaborative Study Group
中科院分区：
文献类型：
--
作者：
Rider LG;Shah M;Mamyrova G;Huber AM;Rice MM;Targoff IN;Miller FW;Childhood Myositis Heterogeneity Collaborative Study Group
青少年特发性炎症性肌病（JIIM）是一种以骨骼肌无力、特征性皮疹和其他系统性特征为特征的系统性自身免疫性疾病。在我们确定JIIM主要临床亚组表型的研究的后续研究中，我们比较了肌炎特异性自身抗体（MSA）亚组的人口统计学、临床特征、实验室测量和结果，以及在一项独立的自然史研究中登记的成人特发性炎性肌病患者的已发表数据。在本研究中，430名患者参加了一项全国性的登记研究，他们进行了肌炎自身抗体的血清检测，其中374名患者有单一特异性MSA （n = 253）或未识别MSA (n = 121)，这些患者是本报告的主题。在单变量分析之后，我们使用随机森林分类和精确逻辑回归模型来比较自身抗体亚群。抗p155/140自身抗体是最常见的亚组，出现在32%的青少年皮肌炎（JDM）或与JDM重叠的肌炎患者中，其次是抗mj自身抗体，出现在20%的JIIM患者中，主要出现在JDM中。其他msa，包括抗合成酶、抗信号识别颗粒（SRP）和抗mi -2，仅在10%的JIIM患者中存在。抗p155/140自身抗体亚组的特征包括Gottron丘疹、马来疹、“披肩征”皮疹、光敏性、角质层过度生长、最低肌酸激酶（CK）水平和主要的慢性病程。抗mj抗体患者的不同特征包括肌肉痉挛、发音障碍、中等CK水平、高住院频率和单环病程。抗合成酶抗体患者有更高频率的间质性肺病、关节痛和“机械师之手”，并且在诊断时年龄较大。抗srp组仅为青少年多肌炎，其特征为黑人高频率、发病严重、远端无力、跌倒发作、雷诺现象、心脏受累、高CK水平、慢性病程、频繁住院和轮椅使用。抗mi -2亚组的特征包括西班牙裔、典型皮肌炎和恶性皮疹、高CK水平和非常低的死亡率。最后，没有任何当前定义的MSA或肌炎相关自身抗体的患者最常见的特征包括线性伸肌红斑、关节痛和单环病程。青少年和成人特发性炎性肌病亚组之间有一些共同的人口统计学和临床特征，但有几个重要的差异。我们的结论是，青少年肌炎是一种异质性的疾病，具有不同的自身抗体表型，由不同的临床和人口统计学特征、实验室特征和结果定义。
The juvenile idiopathic inflammatory myopathies (JIIM) are systemic autoimmune diseases characterized by skeletal muscle weakness, characteristic rashes, and other systemic features. In follow-up to our study defining the major clinical subgroup phenotypes of JIIM, we compared demographics, clinical features, laboratory measures, and outcomes among myositis-specific autoantibody (MSA) subgroups, as well as with published data on adult idiopathic inflammatory myopathy patients enrolled in a separate natural history study. In the present study, of 430 patients enrolled in a nationwide registry study who had serum tested for myositis autoantibodies, 374 had either a single specific MSA (n = 253) or no identified MSA (n = 121) and were the subject of the present report. Following univariate analysis, we used random forest classification and exact logistic regression modeling to compare autoantibody subgroups. Anti-p155/140 autoantibodies were the most frequent subgroup, present in 32% of patients with juvenile dermatomyositis (JDM) or overlap myositis with JDM, followed by anti-MJ autoantibodies, which were seen in 20% of JIIM patients, primarily in JDM. Other MSAs, including anti-synthetase, anti-signal recognition particle (SRP), and anti-Mi-2, were present in only 10% of JIIM patients. Features that characterized the anti-p155/140 autoantibody subgroup included Gottron papules, malar rash, “shawl-sign” rash, photosensitivity, cuticular overgrowth, lowest creatine kinase (CK) levels, and a predominantly chronic illness course. The features that differed for patients with anti-MJ antibodies included muscle cramps, dysphonia, intermediate CK levels, a high frequency of hospitalization, and a monocyclic disease course. Patients with anti-synthetase antibodies had higher frequencies of interstitial lung disease, arthralgia, and “mechanic’s hands,” and had an older age at diagnosis. The anti-SRP group, which had exclusively juvenile polymyositis, was characterized by high frequencies of black race, severe onset, distal weakness, falling episodes, Raynaud phenomenon, cardiac involvement, high CK levels, chronic disease course, frequent hospitalization, and wheelchair use. Characteristic features of the anti-Mi-2 subgroup included Hispanic ethnicity, classic dermatomyositis and malar rashes, high CK levels, and very low mortality. Finally, the most common features of patients without any currently defined MSA or myositis-associated autoantibodies included linear extensor erythema, arthralgia, and a monocyclic disease course. Several demographic and clinical features were shared between juvenile and adult idiopathic inflammatory myopathy subgroups, but with several important differences. We conclude that juvenile myositis is a heterogeneous group of illnesses with distinct autoantibody phenotypes defined by varying clinical and demographic characteristics, laboratory features, and outcomes.