Michailou Maria, Perdikogianni Chryssoula
Department of Pediatrics, Medical School University of Crete, 70013 Heraklion, Greece.
Children (Basel). 2025 Mar 30;12(4):446. doi: 10.3390/children12040446.
Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis (PFAPA) syndrome is an autoinflammatory disorder of unknown genetic etiology typically characterized by recurrent fever episodes, pharyngitis, aphthous stomatitis and cervical lymphadenitis. The syndrome runs a benign course with fever episodes recurring in regular intervals and usually resolves around adolescence, even though, for a subset of patients, it persists through adulthood. It is considered a condition of multifactorial etiology, a syndrome that is triggered by environmental factors in genetically predisposed individuals. Increasing evidence points towards a correlation between monogenic autoinflammatory syndromes and PFAPA syndrome both in pathogenesis and therapeutic approaches. In this review, we present an update of the current literature on PFAPA and focus on new data on genetics of PFAPA and the association of PFAPA with other autoinflammatory diseases.
周期性发热、阿弗他口炎、咽炎和腺炎（PFAPA）综合征是一种遗传病因不明的自身炎症性疾病，其典型特征为反复发热、咽炎、阿弗他口炎和颈部淋巴结炎。该综合征病程呈良性，发热发作有规律地反复出现，通常在青春期左右缓解，不过，对于一部分患者而言，它会持续至成年期。它被认为是一种多因素病因的病症，是由遗传易感性个体中的环境因素引发的综合征。越来越多的证据表明，单基因自身炎症性综合征与PFAPA综合征在发病机制和治疗方法上均存在关联。在本综述中，我们呈现了PFAPA当前文献的最新情况，并聚焦于PFAPA遗传学的新数据以及PFAPA与其他自身炎症性疾病的关联。
