川崎病:遗传学和病理生理学的最新进展。

IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Genetic testing and molecular biomarkers Pub Date : 2024-08-26 DOI:10.1089/gtmb.2024.0035
Evdoxia Sapountzi, Eleni P Kotanidou, Vasiliki-Rengina Tsinopoulou, Kallirhoe Kalinderi, Liana Fidani, Andreas Giannopoulos, Assimina Galli-Tsinopoulou
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引用次数: 0

摘要

川崎病(Kawasaki disease,KD)是一种主要影响儿童的全身性血管炎,它仍然是儿科医疗保健的一个重大挑战。川崎病于 1967 年首次被发现,目前已被公认为发达国家儿童缺血性心脏病的主要病因。本综述全面介绍了 KD 的最新进展,重点关注生物标志物、病理生理学和遗传关联。KD 的临床表现,包括持续发热和皮肤黏膜病变等症状,常常与其他儿科疾病重叠,使诊断变得复杂。这种模糊性,尤其是在不完全KD病例中,凸显了对特异性生物标志物和更精确诊断方法的迫切需要。最近的研究在确定血清生物标志物和 microRNA 方面取得了可喜的进展,有助于开发快速诊断工具。然而,这些尚未完全融入临床实践。文章重点介绍了 KD 的病理生理学方面,强调了基于遗传倾向的靶向疗法和个性化医疗方法的潜力。文章还强调,全球合作研究和提高公众对 KD 的认识是改善其管理的关键策略。这篇综述介绍了目前对 KD 的认识,同时指出了研究和临床护理方面的差距和未来方向。其最终目标是提高诊断准确性、优化治疗策略、改善患者预后,从而解决儿科医学中这一神秘且可能危及生命的复杂问题。
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Kawasaki Disease: An update on Genetics and Pathophysiology.

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.

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来源期刊
CiteScore
2.50
自引率
7.10%
发文量
63
审稿时长
1 months
期刊介绍: Genetic Testing and Molecular Biomarkers is the leading peer-reviewed journal covering all aspects of human genetic testing including molecular biomarkers. The Journal provides a forum for the development of new technology; the application of testing to decision making in an increasingly varied set of clinical situations; ethical, legal, social, and economic aspects of genetic testing; and issues concerning effective genetic counseling. This is the definitive resource for researchers, clinicians, and scientists who develop, perform, and interpret genetic tests and their results. Genetic Testing and Molecular Biomarkers coverage includes: -Diagnosis across the life span- Risk assessment- Carrier detection in individuals, couples, and populations- Novel methods and new instrumentation for genetic testing- Results of molecular, biochemical, and cytogenetic testing- Genetic counseling
期刊最新文献
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