肿瘤坏死因子受体相关周期性发热综合征1例并文献复习  

TNF RECEPTOR-ASSOCIATED PERIODIC SYNDROME:A CASE REPORT AND LITERATURE REVIEW

作　　者：林志华 毛成刚[1] 王芳[1] 柏翠[1] 司辉[1] 郭兴青[1] LIN Zhihua;MAO Chenggang;WANG Fang;BAI Cui;SI Hui;GUO Xingqing(Department of Pediatric Respirology and Cardiology,Affiliated Hospital of Qingdao University,Qingdao 266555,China)

机构地区：[1]青岛大学附属医院儿童呼吸心血管内科,山东青岛266555

出　　处：《青岛大学学报（医学版）》2023年第2期300-303,共4页Journal of Qingdao University(Medical Sciences)

基　　金：湖北陈孝平科技发展基金项目(CXPJJH121002-202110)。

摘　　要：目的总结1例因TNFRSF1A基因变异导致肿瘤坏死因子受体相关周期性发热综合征(TRAPS)的诊疗过程,以提高临床医生对该病的认识。方法回顾性分析我院收治的1例TRAPS病儿的临床资料,并进行相关文献复习。结果病儿,女,6岁7个月,反复发热4年,每次发热伴有白细胞、C反应蛋白、红细胞沉降率明显升高,1年前全外显子基因检测示TNFRSF1A基因c.350G>C变异,其父母无此变异,该变异为新发致病性变异,修正诊断为TRAPS。结论TRAPS为罕见遗传病,其临床表现多样,以反复发热最为常见,基因检测有助于诊断和指导治疗。Objective To summarize the diagnosis and treatment of a case of tumor necrosis factor receptor-associated periodic syndrome(TRAPS)caused by TNFRSF1A mutation,and to improve clinicians’understanding of the disease.Methods The clinical data of a patient with TRAPS in our hospital were analyzed retrospectively,and related literatures were reviewed.Results The female patient aged 6 years and 7 months old had a recurrent fever for 4 years,with significant increases in white blood cells,C-reactive protein,and erythrocyte sedimentation rate during each paroxysm.One year ago,the whole exon genetic test showed TNFRSF1A mutation c.350G>C,a new pathogenic variation,which was not found in the child’s parents,and the diagnosis was corrected as TRAPS.Conclusion TRAPS is a rare genetic disease with various clinical manifestations,of which recurrent fever is the most common,and genetic tests are helpful for diagnosis and guiding treatment.

关 键 词：遗传性自身炎症性疾病 发热 受体 肿瘤坏死因子 Ⅰ型 遗传变异 病例报告 

分 类 号：R725.96[医药卫生—儿科]