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儿科风湿性疾病的生物标志物研究进展。

Advances in biomarkers for paediatric rheumatic diseases.

机构信息

Università degli Studi di Genova, Via Balbi 5, 16126 Genoa, Italy.

Pediatria II, Istituto Giannina Gaslini, Via G. Gaslini 5, 16147 Genoa, Italy.

出版信息

Nat Rev Rheumatol. 2015 May;11(5):265-75. doi: 10.1038/nrrheum.2014.208. Epub 2014 Dec 16.

DOI:10.1038/nrrheum.2014.208
PMID:25512012
Abstract

The search for biomarkers in paediatric rheumatic diseases, particularly juvenile idiopathic arthritis (JIA), childhood lupus nephritis (LN), and juvenile idiopathic inflammatory myopathies (JIIMs) is attracting increased interest. In JIA, a number of biomarkers have shown potential for predicting clinical phenotype, disease activity and severity, clinical remission and relapse, response to treatment, and disease course over time. In systemic JIA, measurement of biomarkers that reflect the degree of activation and expansion of T cells and macrophages might be helpful for detecting subclinical macrophage activation syndrome. Urine biomarkers for childhood LN hold promise for facilitating early diagnosis and improving disease monitoring and assessment of response to therapy. Myositis-specific autoantibodies define distinct serological subgroups of JIIMs, albeit with similar clinical features, responses to therapy, and prognoses. Use of biomarkers may potentially help to avoid invasive procedures, such as renal biopsy in systemic lupus erythematosus and muscle biopsy in juvenile dermatomyositis. Incorporation of effective and reliable biomarkers into routine practice might facilitate adoption of a stratified approach to investigation and management, foster the implementation of research into the design of personalized and targeted therapies, and ultimately lead to more rational and effective clinical care.

摘要

在儿科风湿性疾病(尤其是幼年特发性关节炎(JIA)、儿童狼疮肾炎(LN)和青少年特发性炎症性肌病(JIIMs))中寻找生物标志物越来越受到关注。在 JIA 中,许多生物标志物已显示出预测临床表型、疾病活动度和严重程度、临床缓解和复发、对治疗的反应以及随时间推移的疾病过程的潜力。在全身性 JIA 中,测量反映 T 细胞和巨噬细胞激活和扩增程度的生物标志物可能有助于检测亚临床巨噬细胞活化综合征。儿童 LN 的尿液生物标志物有望促进早期诊断,并改善疾病监测和治疗反应评估。肌炎特异性自身抗体定义了 JIIMs 的不同血清学亚群,尽管具有相似的临床特征、对治疗的反应和预后。生物标志物的使用可能有助于避免侵入性操作,如系统性红斑狼疮中的肾活检和青少年皮肌炎中的肌肉活检。将有效和可靠的生物标志物纳入常规实践可能有助于采用分层方法进行调查和管理,促进针对个性化和靶向治疗设计的研究的实施,并最终导致更合理和有效的临床护理。

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Anti-MDA5 autoantibodies in juvenile dermatomyositis identify a distinct clinical phenotype: a prospective cohort study.青少年皮肌炎中的抗MDA5自身抗体可识别一种独特的临床表型:一项前瞻性队列研究。
Arthritis Res Ther. 2014 Jul 2;16(4):R138. doi: 10.1186/ar4600.
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Update on research and clinical translation on specific clinical areas: From bench to bedside: How insight in immune pathogenesis can lead to precision medicine of severe juvenile idiopathic arthritis.特定临床领域的研究和临床转化进展:从基础到临床:对免疫发病机制的深入了解如何引领幼年特发性关节炎精准治疗。
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Metabolomics in juvenile idiopathic arthritis: A distinct profile in patients under methotrexate.青少年特发性关节炎的代谢组学:甲氨蝶呤治疗患者的独特特征。
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Defining criteria for disease activity states in juvenile dermatomyositis based on the Juvenile Dermatomyositis Activity Index.基于青少年皮肌炎活动指数定义青少年皮肌炎疾病活动状态的标准。
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MicroRNAs in Juvenile Idiopathic Arthritis: State of the Art and Future Perspectives.青少年特发性关节炎中的微小RNA:现状与未来展望
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Int J Mol Sci. 2023 Jan 14;24(2):1671. doi: 10.3390/ijms24021671.
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