Clinical features and new diagnostic criteria for the syndrome of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis
Clinical features and new diagnostic criteria for the syndrome of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis
复制标题
DOI：
10.1111/1756-185x.13610
复制
发表时间：
2019-08-01
影响因子：
2.5
通讯作者：
Agematsu, Kazunaga
中科院分区：
文献类型：
--
作者：
Takeuchi, Yusuke;Shigemura, Tomonari;Agematsu, Kazunaga
目的周期性发热、口疮性口炎、咽炎和颈部腺炎综合征（PFAPA）是一种以周期性发热为表现的常见炎症性疾病。我们的目的是根据我们名录中 PFAPA 患者的临床特征，建立更具体的 PFAPA 诊断标准。方法 对 2000 年 4 月至 2018 年 4 月期间在我院及其他附属医院治疗的 257 例日本 PFAPA 患者的临床、实验室、遗传和家族史详细信息进行分析，并定量测量中性粒细胞上 CD64 分子的数量和血清炎症细胞因子的水平。针对多种疾病计算了该标准的敏感性和特异性。结果 由于反复发烧是至关重要的发现，因此将其定义为所需的标准。扁桃体炎/咽炎伴白苔是重要的伴随症状。与发热相关的其他症状包括颈部淋巴结炎（伴有压痛）、口疮性口炎、喉咙痛、呕吐和头痛，但不包括咳嗽。共有159名（62%）患者有反复发烧家族史，表明为常染色体显性遗传。 C反应蛋白水平在发热发作期间极度升高，但在无发热期间则正常。 199 名接受测试的患者中有 72 名的血清免疫球蛋白 D 水平较高。口服糖皮质激素和西咪替丁分别对所有患者和 51.6% 的患者极其有效。我们将上述定义为支持标准。这些标准足够敏感和具体，足以将 PFAPA 与其他复发性发热疾病区分开来。发病期间血清干扰素-γ水平升高，中性粒细胞显着表达 CD64，这表明它们有助于诊断。结论 我们的新标准对于诊断 PFAPA 很有用。
Aim The syndrome of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is a common inflammatory disease that presents with periodic fever. We aimed to establish more specific diagnostic criteria for PFAPA based on the clinical characteristics of PFAPA patients in our directory. Method The clinical, laboratory, genetic, and family history details of 257 Japanese PFAPA patients treated at our and other affiliated hospitals between April 2000 and April 2018 were analyzed along with quantitative measurements of the number of CD64 molecules on neutrophils, and the levels of serum inflammatory cytokines. The sensitivity and specificity of the criteria were calculated for several diseases. Results Because recurrent fevers were crucial findings, they were defined as the required criterion. Tonsillitis/pharyngitis with white moss were important accompanying signs. Other symptoms associated with febrile episodes were cervical lymphadenitis with tenderness, aphthous stomatitis, sore throat, vomiting, and headache but not cough. A total of 159 (62%) patients had a family history of recurrent fevers, indicating autosomal dominant inheritance. C-reactive protein levels were extremely elevated during febrile attacks but normal in attack-free periods. Serum immunoglobulin D levels were high in 72 of the 199 tested patients. Oral glucocorticoid and cimetidine were extremely effective in all and 51.6% of the patients, respectively. We defined the above as supportive criteria. These criteria were sensitive and specific enough to distinguish PFAPA from other recurrent fever diseases. Raised serum interferon-gamma levels and remarkable CD64 expression on neutrophils during flare-ups were recognized, indicating they contributed to diagnosis. Conclusion Our new criteria are useful for diagnosing PFAPA.