Clinical analysis of 10 cases of multi-center tumor necrosis factor receptor-associated periodic syndrome.
10.3760/cma.j.cn112140-20230805-00079
- Author:
Ming Sheng MA
1
;
Zhi YANG
2
;
Cai Hui ZHANG
1
;
Yao Yao SHANGGUAN
3
;
Yong Zhen LI
4
;
Mei Fang ZHU
5
;
Cui BAI
6
;
Yu ZHOU
1
;
Qiu Ye ZHANG
6
;
Hai Guo YU
5
;
Xiao Chuan WU
4
;
Wen Jie ZHENG
3
;
Jun YANG
2
;
Hong Mei SONG
1
Author Information
1. Department of Pediatrics, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Union Translational Medicine Center, Beijing 100730, China.
2. Department of Rheumatology and Immunology, Shenzhen Children's Hospital, Shenzhen 518038, China.
3. Department of Pediatric Rheumatology, the Second Affiliated Hospital of Wenzhou Medical University, Wenzhou 325027, China.
4. the Children's Medical Center, the Second Xiangya Hospital, Central South University, Changsha 410011, China.
5. Department of Rheumatology, Children's Hospital of Nanjing Medical University, Nanjing 210008, China.
6. Department of Pediatric Nephrology and Rheumatism and Immunology, the Affiliated Hospital of Qingdao Universit, Qingdao 266000, China.
- Publication Type:Journal Article
- MeSH:
Male;
Child;
Female;
Humans;
Child, Preschool;
Receptors, Tumor Necrosis Factor, Type I/genetics*;
Retrospective Studies;
Hereditary Autoinflammatory Diseases/drug therapy*;
Glucocorticoids/therapeutic use*;
Biological Factors/therapeutic use*;
Immunosuppressive Agents/therapeutic use*;
Autoantibodies;
Familial Mediterranean Fever/diagnosis*;
Mutation
- From:
Chinese Journal of Pediatrics
2023;61(12):1098-1102
- CountryChina
- Language:Chinese
-
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.
