Clinical analysis of 10 cases of multi-center tumor necrosis factor receptor-associated periodic syndrome / 中华儿科杂志
Chinese Journal of Pediatrics
;
(12): 1098-1102, 2023.
Article
Dans Chinois
| WPRIM
| ID: wpr-1013231
ABSTRACT
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Fièvre méditerranéenne familiale
/
Autoanticorps
/
Facteurs biologiques
/
Études rétrospectives
/
Récepteur au facteur de nécrose tumorale de type I
/
Maladies auto-inflammatoires héréditaires
/
Glucocorticoïdes
/
Immunosuppresseurs
/
Mutation
Limites du sujet:
Enfant
/
Enfant d'âge préscolaire
/
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Pediatrics
Année:
2023
Type:
Article
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