儿童周期性发热综合征17例分析  

Periodic fever syndrome in children:an analysis of 17 cases

作　　者：余婷婷 梁伟玲 刘陈菁 吴倩 陈冠荣[3] 刘宇隆[3] 赵晓东[1] 毛华伟[1] Yu Tingting;Liang Weiling;Liu Chenjing;Wu Qian;Chen Guanrong;Liu Yulung;Zhao Xiaodong;Mao Huawei(Department of Rheumatology and Immunology,Children's Hospital of Chongqing Medical University,Ministry of Education Key Laboratory of Child Development and Disorders,China International Science and Technology Cooperation Base of Child Development and Critical Disorders,Chongqing Key Laboratory of Child Infection and Immunity;Department of Pediatrics,The University of Hongkong-Shenzhen Hospital;Department of Paediatrics and Adolescent Medicine,The University of Hongkong)

机构地区：[1]重庆医科大学附属儿童医院风湿免疫科、儿童发育疾病研究教育部重点实验室、儿童发育重大疾病国家国际科技合作基地、儿童感染免疫重庆市重点实验室,重庆400014 [2]香港大学深圳医院儿科,深圳518053 [3]香港大学儿童及青少年科学系,香港999077

出　　处：《重庆医科大学学报》2020年第8期1178-1183,共6页Journal of Chongqing Medical University

基　　金：国家自然科学基金资助项目(编号:81671626);重庆医科大学附属儿童医院引进人才启动基金资助项目(编号:4000026)。

摘　　要：目的:探讨儿童周期性发热综合征(periodic fever syndrome,PFS)的临床特点,提高对该病的认识。方法:回顾性分析2014年2月至2018年6月在香港大学深圳医院就诊的17例儿童PFS临床资料、实验室检查、遗传学诊断。结果:11例周期性发热-阿弗他口炎-咽炎-淋巴结炎综合征(periodic fever,aphthous stomatitis,pharyngitis and adenitis syndrome,PFAPA)患儿,发热时长中位数4.5 d,每次发作的最高温度40℃,发作间隔时间中位数为4周。6例家族性地中海热(familial Mediterranean fever,FMF)患儿,发热时长中位数3.25 d,每次发作的最高温度40℃,发作间隔时间中位数为4周。PFAPA患者11例有咽炎(100%)、7例有颈部淋巴结炎(63.6%)、7例有口腔溃疡(63.6%)、3例有腹痛(27.3%)、1例有皮疹(9.1%)。FMF患者2例有腹痛(33.3%)、2例有颈部淋巴结炎(33.3%)、2例有口腔溃疡(33.3%)、2例有咽炎(33.3%)。实验室检查示所有PFS患者发热期白细胞(white blood cell,WBC),急相反应物质C反应蛋白(C-reactive protein,CRP)、血沉(erythrocyte sedimentation rate,ESR)升高,而降钙素原(procalcitonin,PCT)正常,微生物学检查、自身抗体检查阴性。基因检测示11例PFAPA患者中4例MEFV有一个位点突变,6例FMF患者中MEFV均有2~3个位点杂合突变。结论:临床表现为周期性发热,伴咽炎、颈部淋巴结炎等症状,实验室检查提示急相反应物CRP、ESR升高时,需考虑PFS。同时,本研究也提出PCT可以辅助鉴别PFS和细菌感染。Objective:To investigate the clinical features of periodic fever syndrome(PFS) in children and to improve the understanding of the disease. Methods:A retrospective analysis was performed on the clinical data,laboratory examinations,and genetic diagnoses of 17 children with PFS who attended the University of Hongkong-Shenzhen Hospital from February 2014 to June 2018. Results:There were 11 and 6 children who were diagnosed with periodic fever,aphthous stomatitis,pharyngitis,and adenitis syndrome(PFAPA)and familial Mediterranean fever(FMF),respectively. The median duration of fever episode,the highest temperature during each episode,and the median interval between episodes were 4.5 days,40 ℃,and 4 weeks,respectively,for PFAPA,and 3.25 days,40 ℃,and 4 weeks,respectively,for FMF. Among the patients with PFAPA,11(100%) had pharyngitis,7(63.6%) had cervical lymphadenitis,7(63.6%) had an oral ulcer,3(27.3%) had abdominal pain,and 1(9.1%) had a rash. Among the patients with FMF,2(33.3%) had abdominal pain,2(33.3%) had cervical lymphadenitis,2(33.3%) had an oral ulcer,and 2(33.3%)had pharyngitis. Laboratory examinations revealed elevated levels of white blood cells(WBC),C-reactive protein(CRP),and erythrocyte sedimentation rate(ESR) but normal procalcitonin(PCT) and negative results of microbiological and autoantibody tests in all the patients with PFS during fever episode. Gene detection revealed 1 site mutation in the MEFV gene in 4 out of 11 patients with PFAPA and 2-3 site mutations in the MEFV gene in all the 6 patients with FMF. Conclusion:PFS should be considered in patients suffering from periodic fever along with symptoms such as pharyngitis and cervical lymphadenitis accompanied by elevated CRP and ESR as revealed by laboratory examinations. Meanwhile,this study suggests that PCT can assist the differential diagnosis between PFS and bacterial infection.

关 键 词：周期性发热 周期性发热-阿弗他口炎-咽炎-淋巴结炎综合征 家族性地中海热 临床特征 

分 类 号：R725.9[医药卫生—儿科]