Clinical features of children with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome: an analysis of 13 cases.
- Author:
Ji-Qian HUANG
1
;
Xiao-Hua YE
1
;
Kang-Kang YANG
1
;
Yao-Yao SHANGGUAN
1
;
Yi-Wei DONG
1
;
Wen-Jie ZHENG
1
Author Information
1. Department of Pediatric Rheumatology, Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, China.
- Publication Type:Journal Article
- MeSH:
Child;
Child, Preschool;
Fever/etiology*;
Humans;
Infant;
Lymphadenitis/diagnosis*;
Pharyngitis/drug therapy*;
Pyrin;
Retrospective Studies;
Stomatitis, Aphthous/genetics*
- From:
Chinese Journal of Contemporary Pediatrics
2021;23(2):143-147
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To study the clinical features of children with periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome, a polygenic and multifactorial autoinflammatory disease with unknown pathogenesis.
METHODS:A retrospective analysis was performed on the medical data of 13 children with PFAPA syndrome.
RESULTS:All 13 children had disease onset within the age of 3 years, with a mean age of onset of (14±10) months. They all had periodic fever, with 8-18 attacks each year. The mean interictal period of fever was (30±5) days. Pharyngitis, cervical adenitis, and aphthous stomatitis were the three cardinal symptoms, with incidence rates of 100% (13/13), 85% (11/13), and 38% (5/13) respectively. There were increases in white blood cells, C-reactive protein, and erythrocyte sedimentation rate during fever. Of all the 13 children, 6 underwent whole exome sequencing and 7 underwent panel gene detection for autoinflammatory disease, and the results showed single heterozygous mutations in the
CONCLUSIONS:For children with unexplained periodic fever with early onset accompanied by pharyngitis, cervical adenitis, aphthous stomatitis, elevated inflammatory indices, and good response to glucocorticoids, PFAPA syndrome should be considered. This disorder has good prognosis, and early diagnosis can avoid the long-term repeated use of antibiotics.
