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川崎病:遗传学和病理生理学的最新进展。

Kawasaki Disease: An update on Genetics and Pathophysiology.

机构信息

Outpatient Rheumatology Unit, 2nd Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, AHEPA University General Hospital, Thessaloniki, Greece.

2nd Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, AHEPA University General Hospital, Thessaloniki, Greece.

出版信息

Genet Test Mol Biomarkers. 2024 Sep;28(9):373-383. doi: 10.1089/gtmb.2024.0035. Epub 2024 Aug 26.

Abstract

Kawasaki disease (KD), a systemic vasculitic condition predominantly affecting children, remains a significant challenge in pediatric health care. First identified in 1967, KD is now recognized as the primary cause of pediatric ischemic heart disease in developed countries. This review provides a comprehensive update of KD, focusing on biomarkers, pathophysiology, and genetic associations. KD's clinical manifestation, including symptoms such as persistent fever and mucocutaneous changes, often overlaps with other pediatric conditions, complicating its diagnosis. This ambiguity, especially in cases of incomplete KD, highlights the critical need for specific biomarkers and more precise diagnostic methods. Recent studies have made promising advancements in identifying serum biomarkers and microRNAs, contributing to the development of rapid diagnostic tools. However, these are yet to be fully integrated into clinical practice. The article focuses on the pathophysiological aspects of KD, highlighting the potential for targeted therapies and personalized medicine approaches based on genetic predispositions. Collaborative efforts in global research and raising public awareness about KD are emphasized as key strategies for improving its management. This review presents the current understanding of KD while pointing out the gaps and future directions in research and clinical care. The ultimate goal is to enhance diagnostic accuracy, optimize treatment strategies, and improve patient outcomes, thereby addressing the complexities of this enigmatic and potentially life-threatening condition in pediatric medicine.

摘要

川崎病(KD)是一种主要影响儿童的系统性血管炎疾病,仍然是儿科医疗保健的重大挑战。该疾病于 1967 年首次被发现,现在被认为是发达国家儿童缺血性心脏病的主要原因。本综述全面更新了川崎病的相关信息,重点介绍了生物标志物、病理生理学和遗传相关性。川崎病的临床表现包括持续性发热和黏膜皮肤变化等症状,常与其他儿科疾病相重叠,从而使诊断变得复杂。这种不明确性,尤其是在不完全川崎病的情况下,凸显了对特定生物标志物和更精确诊断方法的迫切需求。最近的研究在识别血清生物标志物和 microRNAs 方面取得了有希望的进展,有助于开发快速诊断工具。然而,这些仍有待完全纳入临床实践。本文重点关注川崎病的病理生理学方面,强调了基于遗传易感性的靶向治疗和个性化医疗方法的潜力。强调了全球研究中的合作努力和提高公众对川崎病的认识,这是改善其管理的关键策略。本综述介绍了目前对川崎病的理解,同时指出了研究和临床护理中的差距和未来方向。最终目标是提高诊断准确性、优化治疗策略并改善患者预后,从而应对儿科医学中这种神秘且潜在危及生命的疾病的复杂性。

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