The Role of MEFV Gene Mutation in PFAPA Syndrome Phenotype

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Dönmez A. S., Kılıç Kaya S., Aras T., Çayır A., Adrovic A.

8.genç pediatristler kongresi & 5Th congress of paediatric association of the balkan, İstanbul, Türkiye, 02 Kasım 2023 - 05 Temmuz 2026, ss.61-62, (Tam Metin Bildiri)

  • Yayın Türü: Bildiri / Tam Metin Bildiri
  • Basıldığı Şehir: İstanbul
  • Basıldığı Ülke: Türkiye
  • Sayfa Sayıları: ss.61-62
  • Atatürk Üniversitesi Adresli: Evet

Özet

Objective: PFAPA syndrome (periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis) is a chronic disease of unknown etiology, characterized by periodic high fever attacks accompanied by aphthous stomatitis, pharyngitis and cervical adenitis, sometimes associated with headache, abdominal pain or joint pain. PFAPA syndrome is the second most common autoinflammatory disease, following Familial Mediterranean fever (FMF). FMF is caused by the MEFV gene muta-tion, inherited in autosomal recessive manner. The main drug used in the treatment is colchicine. Colchicine treatment has been found to be effective in cases of MEFV gene mutation carriers detected in PFAPA syndrome patients. In this study, we aimed to evaluate the clinical features and their relation to genetic mutation results in patients with periodic fever (FMF and PFAPA syndrome) who applied to the Pediatric Rheumatology and Pediatric Outpatient department at Erzurum City Hospital.

Methods: A total of 128 patients with periodic fever (FMF and PFAPA) were blindingly included in this study. The patients' complaints, clinical findings and genetic analysis results were evaluated. The detected mutations were divided into 3 groups: exon 10, non-exon 10 and those with no mutation detected.

Results: Of the 128 patients participating in our study, 66 were women and 22 were men. The mean age was 7.49 years (minimum 1 - maximum 16). Abdominal pain was present in 34.8% of patients (Table 1). Exonl 0 MEFV gene mutation was detected in 96 (75%) patients, non-exon10 MEFV gene mutation was detected in 16 (12.5%) patients, and no mutation was detected in 16 (12.5%) patients.When comparing clinical features according to the underlying MEFV gene mutation, we could not find any statistically significant differences according to underlying MEFV gene mutations (Table 2).