Clinical analysis of 49 cases of non-inflammasome related conditions.
10.3760/cma.j.cn112140-20220620-00570
- VernacularTitle:非炎症小体病49例临床分析
- Author:
Cai Hui ZHANG
1
;
Ming Sheng MA
1
;
Wei WANG
1
;
Shan JIAN
1
;
Lin WANG
1
;
Ji LI
1
;
Xiao Yan TANG
1
;
Yu ZHANG
1
;
Mei Ying QUAN
1
;
Le Jia ZHANG
1
;
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.
- Publication Type:Journal Article
- MeSH:
Male;
Child;
Female;
Humans;
Retrospective Studies;
Synovitis;
Arthritis, Infectious;
Exanthema;
Glucocorticoids;
Autoantibodies
- From:
Chinese Journal of Pediatrics
2022;60(12):1266-1270
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To summarize the clinical characteristics and provide clues for early identification of non-inflammasome related conditions. Methods: The clinical manifestations, laboratory tests, genetic testing and follow-up of 49 children with non-inflammasome related conditions in Peking Union Medical College Hospital from January 2006 to February 2022 were retrospectively analyzed. Results: A total of 49 children, 29 of them were boys and 20 were girls. The age of onset was 0.8 (0.3, 1.6) years, the age at diagnosis was 5.7 (2.8, 8.8) years, and the time from onset to diagnosis was 3.6 (1.9, 6.3) years. Combined with genetic testing results, 49 children with non-inflammasome related conditions were found, including 34 cases (69%) of Blau syndrome, 4 cases (8%) of tumour necrosis factor receptor-associated periodic syndrome, 4 cases (8%) of haploinsufficiency of A20, 2 cases (4%) of Majeed syndrome, 2 cases (4%) of pyogenic sterile arthritis, pyoderma gangrenosum, acne syndrome and 3 cases (6%) of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome. There were 22 cases (45%) with a positive family history. The clinical manifestations included 37 cases (76%) cases with rash, 38 cases (78%) with joint involvement, 33 cases (67%) with eye involvement, 17 cases (35%) with recurrent fever. In addition, 11 cases (22%) were complicated with digestive system involvement. Thirty cases (61%) presented as elevated inflammatory indexes (erythrocyte sedimentation rate and (or) C-reactive protein), positive autoantibodies were noticed in 3 cases (6%). The patients were treated with glucocorticoid in 23 cases (47%), immunosuppressive agents in 43 cases (88%) and biologic agents in 37 cases (76%). During the follow-up of 5.8 (2.9, 8.9) years, 3 cases (6%) died. Conclusions: The symptoms of non-inflammasome related conditions include recurrent fever, rash, joint and ocular involvement with increased inflammatory indexes and negative autoantibodies. Up to now, glucocorticoids, immunosuppressants and biologic agents are the most popular medications for the non-inflammasome related conditions.
