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超越当下:感染在儿童原发性纤毛运动障碍中作用的现状与未来展望

Beyond the present: current and future perspectives on the role of infections in pediatric PCD.

作者信息

Frohlich Megan, Prentice Bernadette, Owens Louisa, Waters Shafagh, Morgan Lucy

机构信息

Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Sydney, NSW, Australia.

Department of Respiratory Medicine, Sydney Children's Hospital, Sydney, NSW, Australia.

出版信息

Front Pediatr. 2025 Mar 18;13:1564156. doi: 10.3389/fped.2025.1564156. eCollection 2025.

Abstract

INTRODUCTION

Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder affecting motile cilia, leading to impaired mucociliary clearance and increased susceptibility to respiratory infections. These infections contribute to long-term complications such as bronchiectasis and lung function decline.

OBJECTIVES

This review explores both the acute and long-term impact of respiratory infections in children with PCD, while highlighting the multiple contributors to infection susceptibility. The review also evaluates emerging personalized approaches such as gene and mRNA therapy that hold promise for restoring ciliary function and reducing the burden of acute infections in pediatric PCD.

KEY FINDINGS AND CONCLUSIONS

Acute respiratory infections have a significant impact on morbidity in pediatric PCD, driving progressive airway remodeling. While current treatment strategies focus on managing infections directly, emerging therapies targeting inflammation and genetic causes hold promise for reducing infection burden and improving long-term outcomes. Future advances in personalized medicine could further enhance therapeutic approaches in this population.

摘要

引言

原发性纤毛运动障碍(PCD)是一种罕见的遗传性疾病,会影响运动性纤毛,导致黏液纤毛清除功能受损,并增加呼吸道感染的易感性。这些感染会引发诸如支气管扩张和肺功能下降等长期并发症。

目的

本综述探讨了呼吸道感染对PCD患儿的急性和长期影响,同时强调了导致感染易感性的多种因素。该综述还评估了新兴的个性化方法,如基因和mRNA疗法,这些方法有望恢复纤毛功能并减轻小儿PCD急性感染的负担。

主要发现与结论

急性呼吸道感染对小儿PCD的发病率有重大影响,推动气道进行性重塑。虽然目前的治疗策略侧重于直接控制感染,但针对炎症和遗传病因的新兴疗法有望减轻感染负担并改善长期预后。个性化医学的未来进展可能会进一步加强该人群的治疗方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7db4/11958984/e08ee1418100/fped-13-1564156-g001.jpg

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