Relationship Between Clinical Manifestations of Acute Rheumatic Fever and Mutations in the FMF-Associated MEFV Gene Among Turkish Children
Children, cilt.13, sa.6, 2026 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 13 Sayı: 6
- Basım Tarihi: 2026
- Doi Numarası: 10.3390/children13060764
- Dergi Adı: Children
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CINAHL, EMBASE, Directory of Open Access Journals, Health Research Premium Collection (ProQuest)
- Anahtar Kelimeler: acute rheumatic fever, arthritis, carditis, familial mediterranean fever, MEFV gene, mutation
- Bilecik Şeyh Edebali Üniversitesi Adresli: Evet
Özet
Background/Objectives: In individuals with a genetic predisposition, acute rheumatic fever (ARF) can manifest as arthritis, carditis, chorea, subcutaneous nodules, and erythema marginatum. It occurs after a latent period of 1–3 weeks of untreated upper respiratory tract infections caused by group A beta-hemolytic streptococci. The presence and severity of carditis determine the prognosis for ARF. Carditis manifests as pancarditis, and although all patients have pericarditis, not all experience a pericardial effusion. Patients with severe carditis exhibit pericardial effusion more frequently. The physiopathology of ARF remains unclear, specifically which patients will experience carditis, arthritis, or chorea. However, the Turkish population has fully clarified the physiopathology and clinical features of Familial Mediterranean fever (FMF), a common rheumatic disease. In the Turkish population, the heterozygous positivity rate for the FMF gene mutation is 15–35%. For these reasons, we examined the presence of FMF gene mutations in our patients to determine whether there is a correlation between the clinical course of ARF and the FMF gene mutation. Methods: The study included 60 patients with arthritis (n = 11), carditis (n = 26), or both (n = 23), as well as 60 healthy controls. These pediatric patients underwent screening for mutations in exons 2 and 10 of the MEFV gene. Results: There was no statistically significant difference between the patient and control groups in terms of the incidence of MEFV gene mutations in exon 10. However, in patients with ARF, the exon 2 E148Q variant was significantly more common than in the control group. Conclusions: This study suggests a relationship between certain clinical manifestations of ARF and MEFV gene mutations in children.