关键词: 遗传性自身炎症性疾病, 家族性地中海热, 冷吡啉相关周期性综合征, 儿童, 基因型, 肿瘤坏死因子受体相关周期综合征, Blau综合征, 临床表现

Abstract: 【Abstract】 Objective To analyze clinical manifestations and genotypic features of autoinflammatory diseases in children, aiming to enhance the understanding of such diseases. Methods A retrospective analysis was conducted on the clinical data collected from 14 children with autoinflammatory diseases in Department of Dermatology, Children′s Hospital, Capital Institute of Pediatrics from August 2016 to August 2023. Results Among the 14 children, there were 5 with familial Mediterranean fever, 1 with tumor necrosis factor receptor-associated periodic syndrome, 4 with cryopyrin-associated periodic syndrome, and 4 with Blau syndrome. Their average age at onset was 17.6 months, and all of the 14 patients presented with fever and skin rashes. Homozygous mutations were identified in 3 children, and heterozygous or compound heterozygous mutations in other children. Conclusion Among children with autoinflammatory diseases in this study, familial Mediterranean fever, cryopyrin-associated periodic syndrome, and Blau syndrome were relatively common; fever and skin rashes were the most common clinical manifestations, and skin lesions were mainly asymptomatic urticarial rashes and lichenoid papules; early symptoms could be atypical, leading to diagnostic delays.

Key words: Hereditary autoinflammatory diseases, Familial Mediterranean fever, Cryopyrin-associated periodic syndromes, Child, Genotype, Tumor necrosis factor receptor-associated periodic syndrome, Blau syndrome, Clinical features