成人周期性发热-阿弗它口炎-咽炎-淋巴结炎综合征  

Clinical Features of Adult Patients with Periodic Fever,Aphthous Stomatitis,Pharyngitis,and Adenitis

作　　者：赵建红 吴迪 沈敏 ZHAO Jian-hong;WU Di;SHEN Min(Department of Rheumatology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Key Laboratory of Rheumatology and Clinical Immmunology,Ministry of Education,Beijing 100730,China)

机构地区：[1]中国医学科学院,北京协和医学院,北京协和医院,风湿免疫科风湿免疫病学教育部重点实验室,北京100730 [2]河北省唐山市中医医院,唐山063000

出　　处：《中华临床免疫和变态反应杂志》2017年第4期339-343,共5页Chinese Journal of Allergy & Clinical Immunology

基　　金：国家自然科学基金(81501405);中国医学科学院医学与健康科技创新工程项目(2017-I2M-3-001);北京协和医学院协和青年基金(中央高校基本科研业务费专项资金)(3332015092);

摘　　要：目的周期性发热-阿弗它口炎-咽炎-淋巴结炎(periodic fever,aphthous stomatitis,pharyngitis,and adenitis,PFAPA)综合征是一种发病机制不明的多基因多因素自身炎症性疾病。本研究旨在分析成人PFAPA综合征的临床特点。方法 2015年4月至2017年4月北京协和医院风湿免疫科成人自身炎症性疾病中心接诊反复不明原因发热成人(≥14岁)患者52例,收集其临床资料,并进行基因二代测序,对排除单基因自身炎症性疾病最终确诊为PFAPA综合征的患者,分析其临床表现、治疗及预后。结果共7例(13.5%)PFAPA综合征患者,男性居多(85.7%),平均起病年龄(27±10)岁。周期性发热是成人PFAPA综合征的最主要表现,发热期中位数时间为3.5 d,发热间期平均4周。三大主要体征咽炎、颈淋巴结炎和阿弗它口炎的发生率分别为85.7%、57.1%和42.9%。3例患者采用发作期顿服或者短程口服糖皮质激素治疗,均获得显著疗效。结论对于成人起病的不明原因周期性发热伴咽炎、颈淋巴结炎和阿弗它口炎的患者,风湿免疫科医师应考虑到PFAPA综合征。Objective Periodic fever,aphthous stomatitis,pharyngitis,and adenits(PFAPA)syndrome is a multifactorial autoinflammatory disease(AUID)with unknown etiology.We aimed to investigate the clinical features,treatment,and prognosis of Chinese adult patients with PFAPA syndrome.Methods We evaluated the clinical data of 52 adult patients(≥14 years old)with recurrent fever of unknown origin who were suspected monogenic AUIDs in the period through April 2015 to April 2017,at the adult AUIDs center,Department of Rheumatology,Peking Union Medical College Hospital.Gene tests were examined to exclude monogenic AUIDs.The clinical features were evaluated for patients with PFAPA syndrome,and compared with those of adult PFAPA patients from centers abroad.Results A total of 7(13.5%)adult patients were diagnosed as PFAPA syndrome,including 6(85.7%)men.The mean age of disease onset was(27±10)years.Periodic fever was the main character of PFAPA syndrome,with a median attack time of 3.5 days,and median interval of 4 weeks.Pharyngitis,adenitis and aphthous stomatitis were present in 85.7%,57.1%and 42.9%,respectively.Corticosteroids used during attack were effective in 3 patients.Conclusion PFAPA syndrome should be considered in every patient of whatever age suffering from recurrent fevers of unknown origin,especially those with pharyngitis,cervical adenopathy and aphthous stomatitis.

关 键 词：自身炎症性疾病 成人起病 不明原因发热 周期性发热-阿弗它口炎-咽炎-淋巴结炎综合征 

分 类 号：R597[医药卫生—内科学]