Division of Pediatrics, Facultad de Medicina, Pontificia Universidad Católica de Chile, Lira 85, 5th floor, Santiago, Chile,
Clin Rheumatol. 2013 Dec;32(12):1743-9. doi: 10.1007/s10067-013-2334-z. Epub 2013 Jul 23.
The purpose of this study was to analyze the levels of white blood cells and profile of proinflammatory Th1, Th2, Th17, and T regulatory tissue cytokines in the tonsils of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) patients to contribute to the pathophysiological understanding of the PFAPA syndrome. A cohort of PFAPA patients who had tonsillectomy during 2010 and 2011 was included and compared to control patients who had tonsillectomy for tonsillar hypertrophy. White blood cell counts were measured during flares in PFAPA patients and before tonsillectomy in the control group. Cytokine gene expression was analyzed in removed tonsils by real-time PCR. Nine PFAPA patients with a median age of 5.3 years (1.7-8 years) and 17 hypertrophic tonsils of patients with a median age of 4.8 years (2.3-8.4 years) participated in this study. Tonsillectomy was performed during afebrile period between PFAPA flares. Three of the nine patients had recurrent episodes of aphthous stomatitis without fever after tonsillectomy. Leukocyte and neutrophil counts were higher in PFAPA patients compared to controls (p < 0.05). Eosinophil counts were lower in PFAPA patients during flares (p = 0.006). IL-1β, TNF-α, TGF-β, IL-17, and IFN-γ levels were similar in the tonsils of patients and controls. IL-4 gene expression in the tonsils was lower in PFAPA patients compared to those of the controls (p = 0.04). Proinflammatory, effector, and regulatory cytokine gene expression in tonsil tissue of PFAPA children removed in a noninflammatory asymptomatic interval and in control patients were similar. However, IL-4 cytokine gene expression in the tonsils and peripheral blood eosinophils were lower in the PFAPA patients suggesting a potential pathogenesis pathway based on an inhibition of Th2 responses.
本研究旨在分析周期性发热、口疮性口炎、咽炎和颈淋巴结炎（PFAPA）患者扁桃体中白细胞水平和前炎症 Th1、Th2、Th17 和 T 调节组织细胞因子谱，以帮助理解 PFAPA 综合征的病理生理机制。该队列包括 2010 年至 2011 年行扁桃体切除术的 PFAPA 患者，并与因扁桃体肥大而行扁桃体切除术的对照组患者进行比较。在 PFAPA 患者的发作期间测量白细胞计数，并在对照组患者行扁桃体切除术之前测量白细胞计数。通过实时 PCR 分析切除的扁桃体中的细胞因子基因表达。9 例 PFAPA 患者（中位年龄 5.3 岁，1.7-8 岁）和 17 例因扁桃体肥大而行扁桃体切除术的患者（中位年龄 4.8 岁，2.3-8.4 岁）参与了本研究。扁桃体切除术在 PFAPA 发作的无热期进行。9 例患者中有 3 例在扁桃体切除术后出现无热复发性口疮性口炎。与对照组相比，PFAPA 患者的白细胞和中性粒细胞计数较高（p<0.05）。PFAPA 患者在发作期间嗜酸性粒细胞计数较低（p=0.006）。患者和对照组扁桃体中的 IL-1β、TNF-α、TGF-β、IL-17 和 IFN-γ 水平相似。与对照组相比，PFAPA 患者扁桃体组织中 IL-4 基因表达较低（p=0.04）。在非炎症无症状间隔期切除的 PFAPA 儿童和对照组患者的扁桃体组织中，促炎、效应和调节细胞因子基因表达相似。然而，PFAPA 患者的扁桃体和外周血嗜酸性粒细胞中的 IL-4 细胞因子基因表达较低，提示基于 Th2 反应抑制的潜在发病机制途径。
