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The past 25 years in paediatric rheumatology: insights from monogenic diseases
Nature Reviews Rheumatology ( IF 29.4 ) Pub Date : 2024-08-07 , DOI: 10.1038/s41584-024-01145-1
Seza Ozen 1 , Ivona Aksentijevich 2
Affiliation  

The past 25 years have seen major novel developments in the field of paediatric rheumatology. The concept of autoinflammation was introduced to this field, and medicine more broadly, with studies of familial Mediterranean fever, the most common autoinflammatory disease globally. New data on the positive evolutionary selection of familial Mediterranean fever-associated genetic variants might be pertinent to mild gain-of-function variants reported in other disease-associated genes. Genetic studies have unveiled the complexity of human heritability to inflammation and flourishing data from rare monogenic disorders have contributed to a better understanding of general disease mechanisms in paediatric rheumatic conditions. Beyond genomics, the application of other ‘omics’ technologies, including transcriptomics, proteomics and metabolomics, has generated an enormous dataset that can be applied to the development of new therapies and in the practice of precision medicine. Novel biomarkers for monitoring disease activity and progression have also emerged. A surge in the development of targeted biologic therapies has led to durable remission and improved prognosis for many diseases that in the past caused major complications. Last but not least, the COVID-19 pandemic has affected paediatric rheumatology practice and has sparked new investigations into the link between viral infections and unregulated inflammatory responses in children.



中文翻译:


儿科风湿病学过去 25 年:单基因疾病的见解



过去 25 年里,儿科风湿病学领域取得了重大的新进展。通过对全球最常见的自身炎症性疾病——家族性地中海热的研究,自身炎症的概念被引入到这一领域和更广泛的医学领域。关于家族性地中海热相关基因变异的正向进化选择的新数据可能与其他疾病相关基因中报道的轻度功能获得性变异有关。遗传学研究揭示了人类炎症遗传性的复杂性,来自罕见单基因疾病的大量数据有助于更好地了解儿科风湿性疾病的一般疾病机制。除了基因组学之外,其他“组学”技术(包括转录组学、蛋白质组学和代谢组学)的应用已经产生了巨大的数据集,可应用于新疗法的开发和精准医学的实践。用于监测疾病活动和进展的新型生物标志物也已出现。靶向生物疗法的蓬勃发展使许多过去引起严重并发症的疾病得到了持久缓解并改善了预后。最后但并非最不重要的一点是,COVID-19 大流行影响了儿科风湿病学实践,并引发了对病毒感染与儿童不受控制的炎症反应之间联系的新研究。

更新日期:2024-08-07
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