目的 分析NLRP3基因变异致自身炎症性疾病患儿的临床特点，为此类患儿的诊治提供依据。方法 选取2017年2月至2023年3月确诊的NLRP3基因变异致自身炎症性疾病患儿作为研究对象进行回顾性分析。结果 共6例患儿纳入，其中男性3例，女性3例。所有患儿均在婴幼儿期发病，5例反复发热。6例皮疹，确诊前误诊为荨麻疹或过敏性皮炎；1例因关节肿痛曾误诊为幼年特发性关节炎；4例行腰穿检查误诊为化脓性脑膜炎；2例有听力受损；1例全身多器官受累明显。6例在发病期间均观察到白细胞增多，5例检测到C反应蛋白升高，4例血沉增高，4例血清淀粉样蛋白A（SAA）增高，5例贫血，4例白细胞介素6（IL-6）升高，2例白细胞介素1β（IL-1β）升高。4例患儿应用卡那单抗治疗，频率为每8周注射1次，最长随访3年，目前一般情况良好。结论 NLRP3基因变异致自身炎症性疾病临床表现不典型，早期诊断以及早期应用IL-1β拮抗剂如卡那单抗治疗有良好的效果，可显著改善临床症状。

Objective To analyze the clinical features of children with autoinflammatory disease caused by NLRP3 gene variation, and to provide basis for diagnosis and treatment of such children. Methods A retrospective study was conducted on 6 patients diagnosed with autoinflammatory disease caused by NLRP3 gene variation from February 2017 to March 2023. Results A total of 6 children (3 boys and 3 girls) were included. All of the patients developed symptoms in early childhood, with recurrent fever in 5 cases and rash in 6 cases. Before diagnosis, the patients were misdiagnosed as urticaria or atopic dermatitis. One case was misdiagnosed as juvenile idiopathic arthritis due to joint swelling and pain. Four patients were misdiagnosed as suppurative meningitis by lumbar puncture examination and 2 had hearing impairment. One case had obvious multi-organ involvement. Leukocytosis was observed in all 6 cases. C-reactive protein was increased in 5 cases, erythrocyte sedimentation rate was increased in 4 cases, serum amyloid A (SAA) was increased in 4 cases, interleukin-6 (IL-6) was increased in 4 cases, and interleukin-1β (IL-1β) was increased in 2 cases. Five patients had anemia. Four patients were treated with canakinumab by injection every 8 weeks. The patients were followed up for up to 3 years and were generally in good condition. Conclusions NLRP3 gene variations can lead to atypical clinical manifestations of autoinflammatory diseases. Prompt diagnosis and early treatment with IL-1β antagonists like canakinumab supplementation have shown good efficacy in significantly improving clinical symptoms.