Abstract:

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.

Key words: NLRP3-AID, autoinflammatory disease, fever, rare disease, treatment