UO Pediatria II, G. Gaslini Institute and Department of Pediatrics, University of Genoa, Genoa, Italy.
Curr Opin Rheumatol. 2010 Sep;22(5):579-84. doi: 10.1097/BOR.0b013e32833cc9cb.
Periodic fever, apthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome is the most common cause of periodic fever of unknown origin in childhood. During the last years a number of studies on large series of patients have shed more light on the actual clinical characterization, long-term outcome and response to treatment. Current PFAPA criteria have low specificity since they are positive in a considerable proportion of patients with inherited periodic fevers. We report on the findings coming from the analysis of large cohorts of PFAPA patients and the possible implication for the differential diagnosis. An update on the efficacy of possible prophylactic treatments and tonsillectomy is given.
A diagnostic score developed in a large series of children identifies patients meeting PFAPA criteria and at higher risk to carry relevant mutations of genes associated with periodic fevers. Randomized studies on the efficacy of tonsillectomy give a more evidence-based justification to this possible therapeutic approach.
The findings coming from the recent literature give new information to clinicians for the correct diagnostic approach to pediatric and adult patients presenting periodic fever of unknown origin and provide an updated overview on the therapeutic possibilities for patients presenting a persistence of fever attacks.
周期性发热、口疮性口炎、咽炎和淋巴结炎（PFAPA）综合征是儿童不明原因周期性发热的最常见原因。在过去的几年里，许多关于大系列患者的研究更深入地了解了其实际临床特征、长期预后和治疗反应。目前的 PFAPA 标准特异性较低，因为它们在相当一部分遗传性周期性发热患者中呈阳性。我们报告了来自大量 PFAPA 患者队列分析的结果及其对鉴别诊断的可能影响。对可能的预防治疗和扁桃体切除术的疗效进行了更新。
在一系列大型儿童患者中开发的诊断评分可识别符合 PFAPA 标准且更有可能携带与周期性发热相关基因的相关突变的患者。扁桃体切除术疗效的随机研究为这种可能的治疗方法提供了更具循证依据的理由。
最近文献中的研究结果为临床医生提供了正确诊断儿科和成年患者不明原因周期性发热的新信息，并为出现持续性发热发作的患者提供了治疗可能性的最新概述。
