Hirano D, Joh K, Honma S, Sakaguchi R, Saito A , et al.
Kidney medicine •
Despite sharing tonsillar immune dysregulation as a common pathogenic mechanism, concurrent presentation of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome with immunoglobulin A (IgA) nephropathy (IgAN) remains exceptionally rare, with only 1 previous case reported in the literature receiving multidrug immunosuppressive therapy before tonsillectomy. In this study, we report the first pediatric case in which both conditions achieved sustained remission following early tonsillectomy without additional immunosuppression. A 6-year-old boy with a 3-year history of PFAPA developed gross hematuria coinciding with febrile episodes. Kidney biopsy confirmed IgAN. Owing to the poor response to cimetidine and significant disruption to schooling, palatine tonsillectomy was performed at 7 years. Following surgery, PFAPA episodes completely resolved, and hematuria ceased. Repeat kidney biopsy at 11 months postoperatively showed marked histological improvement, with resolution of mesangial hypercellularity and reduced endocapillary proliferation. This case provides the first pediatric case demonstrating that early tonsillectomy alone can effectively treat coexisting PFAPA and IgAN without the need for additional immunosuppressive therapy. The simultaneous clinical and histological remission supports a shared pathogenic mechanism involving tonsillar immune dysfunction and highlights tonsillectomy as a potentially curative intervention for select patients with concurrent tonsil-driven diseases.
Pediatrics international : official journal of the Japan Pediatric Society •
Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is an autoinflammatory disease occurring in children. Although PFAPA is the most common periodic fever syndrome found in children, there are only a few studies defining the clinical characteristics and the efficacy of treatment strategies among Japanese children. This study aimed to clarify the demographic characteristics and clinical features of patients with PFAPA syndrome and to evaluate treatment efficacy. We retrospectively reviewed the clinical features of children with PFAPA who visited Saitama Children's Medical Center between January and December 2019. We also evaluated treatment strategies and their efficacy; abortive treatment with corticosteroids, prophylaxis with cimetidine or colchicine, and surgical management with tonsillectomy. A total of 100 Japanese children (61% male) with PFAPA were included. Median age of onset was 3 years, median duration of fever episodes was 5 days, and median interval between episodes was 4 weeks. The symptoms (frequencies) were pharyngitis (89%), exudate on tonsils (71%), cervical adenitis (50%), and aphthous stomatitis (49%). Approximately 37% of patients took prednisolone for aborting fever attacks, showing a 100% response; 93% were treated with cimetidine, showing an 79.6% response, and 18% were treated with colchicine, showing a 66.7% response. Only one patient underwent tonsillectomy. Among Japanese children with PFAPA, 28% of them were ≥5 years with a male predominance. Pharyngitis is the most frequent symptom associated with fever. Cimetidine is suitable for initial therapy because of its safety and efficacy.