多中心肿瘤坏死因子受体相关的周期性综合征10例临床分析

Clinical analysis of 10 cases of multi-center tumor necrosis factor receptor-associated periodic syndrome

目的:总结肿瘤坏死因子受体相关的周期性综合征(TRAPS)患儿的临床特点。方法:病例系列研究,回顾性分析2011年5月至2021年5月在中国6家医院明确诊断为TRAPS的10例患儿的临床表现、实验室检查、基因检测结果及随访情况。结果:10例TRAPS患儿中男8例、女2例,起病年龄2(1,5)岁,诊断年龄(8±4)岁,起病至诊断时间3(1,7)年。共检出7种TNFRSF1A基因变异,其中父源5例、母源1例、新生变异4例。6例患儿有相关疾病家族史。临床表现为反复发热10例、皮疹4例、腹痛6例、关节受累6例、眶周水肿1例、肌痛4例。2例患儿合并血液系统受累。红细胞沉降率和(或)C反应蛋白明显升高10例。全部患儿均无自身抗体。治疗过程中应用糖皮质激素者5例、免疫抑制剂7例、生物制剂7例。结论:TRAPS临床以反复发热伴关节、消化道、皮肤、肌肉受累为主要表现,炎症指标升高,自身抗体多为阴性。治疗药物多为糖皮质激素、免疫抑制剂及生物制剂。

Objective To summarize the clinical characteristics of tumour necrosis factor receptor-associated periodic syndrome(TRAPS)in children.Methods The clinical manifestations,laboratory tests,genetic testing and follow-up of 10 children with TRAPS from May 2011 to May 2021 in 6 hospitals in China were retrospectively analyzed.Results Among the 10 patients with TRAPS,including 8 boys and 2 girls.The age of onset was 2(1,5)years,the age of diagnosis was(8±4)years,and the time from onset to diagnosis was 3(1,7)years.A total of 7 types of TNFRSF1A gene variants were detected,including 5 paternal variations,1 maternal variation and 4 de novo variations.Six children had a family history of related diseases.Clinical manifestations included recurrent fever in 10 cases,rash in 4 cases,abdominal pain in 6 cases,joint involvement in 6 cases,periorbital edema in 1 case,and myalgia in 4 cases.Two patients had hematological system involvement.The erythrocyte sedimentation rate and C-reactive protein were significantly increased in 10 cases.All patients were negative for autoantibodies.In the course of treatment,5 cases were treated with glucocorticoids,7 cases with immunosuppressants,and 7 cases with biological agents.Conclusions TRAPS is clinically characterized by recurrent fever accompanied by joint,gastrointestinal,skin,and muscle involvement.Inflammatory markers are elevated,and autoantibodies are mostly negative.Treatment mainly involves glucocorticoids,immunosuppressants,and biological agents.