周期性发热、阿弗他口炎、咽炎和颈部淋巴结炎（PFAPA）综合征：发病机制与治疗策略最新见解的更新综述。

文献信息

中文摘要

背景/目的： 周期性发热、阿弗他口炎、咽炎和颈部淋巴结炎（PFAPA）综合征是儿科人群中最常见的周期性发热综合征。其特征为反复、刻板发作的发热，伴有咽炎、颈部淋巴结肿大和阿弗他口炎，有时还伴有其他非特异性症状。发作通常持续3-7天，并以约2-8周的规律间隔复发。PFAPA的病因发病机制仍不完全清楚。越来越多的证据支持免疫失调的核心作用，并涉及多个增加疾病易感性的遗传变异。诊断主要基于临床评估，但在部分病例中，尤其是与其他单基因自身炎症性疾病重叠时，可考虑进行针对性基因检测。PFAPA的管理旨在减少发热发作的频率和强度。急性发作可用退热药、糖皮质激素治疗，或在部分病例中使用抗白介素-1（IL-1）治疗，而预防策略包括秋水仙碱、西咪替丁或扁桃体切除术。维生素D补充、益生菌及其他免疫调节干预等辅助方法也已被研究。本更新综述总结了目前对PFAPA发病机制和治疗方法的最新见解。方法：本叙述性综述通过检索PubMed和Scopus进行，以识别2010年至2026年期间关于PFAPA的英文出版物。结论：儿科医生对于反复发热并伴有口咽症状的儿童，尤其是在标准治疗失败时，应考虑PFAPA，以确保适当管理并避免不必要的抗生素使用。

英文摘要

Background/Objectives: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is the most frequently encountered periodic fever syndrome in pediatric populations. It is characterized by recurrent, stereotyped episodes of fever accompanied by pharyngitis, cervical lymphadenopathy, and aphthous stomatitis, sometimes with other additional nonspecific symptoms. Episodes usually last 3-7 days and recur at regular intervals of approximately 2-8 weeks. The etiopathogenesis of PFAPA remains incompletely understood. Accumulating evidence supports a central role of immune dysregulation with multiple genetic variants that contribute to disease susceptibility. Diagnosis is primarily based on clinical evaluation, although targeted genetic testing may be considered in selected cases particularly when overlapping with other monogenic autoinflammatory disorders. Management of PFAPA aims to decrease the frequency and intensity of febrile episodes. Acute flares are managed with antipyretics, corticosteroids, or, in selected cases, anti-interleukin-1 (IL-1) therapy, while preventive strategies include colchicine, cimetidine, or tonsillectomy. Adjunctive approaches such as vitamin D supplementation, probiotics, and other immunomodulatory interventions have also been investigated. This updated review summarizes current insights into the pathogenesis and therapeutic approaches of PFAPA. Methods: This narrative review was conducted using PubMed, and Scopus to identify English-language publications from 2010 to 2026 addressing PFAPA. Conclusions: Pediatricians should consider PFAPA in children with recurrent fevers and oropharyngeal symptoms, especially when standard treatments fail, to ensure proper management and avoid unnecessary antibiotic use.