Relationship Between Clinical Manifestations of Acute Rheumatic Fever and Mutations in the FMF-Associated <i>MEFV</i> Gene Among Turkish Children
CHILDREN-BASEL, 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-BASEL
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CINAHL, EMBASE, Directory of Open Access Journals, Health Research Premium Collection (ProQuest)
- Hatay Mustafa Kemal Üniversitesi Adresli: Evet
Özet
Highlights What are the main findings? The exon 2 E148Q variant was more frequent in Turkish children with acute rheumatic fever than in healthy controls. MEFVNo significant difference was found between patients and controls in the distribution of exon 10 variants, while E148Q was the most common variant across ARF subgroups. What are the implications of the main findings? MEFVThe E148Q variant may contribute to genetic susceptibility or phenotypic variation in pediatric acute rheumatic fever. variations, particularly E148Q, may deserve consideration in the differential evaluation of Turkish children presenting with acute rheumatic fever and overlapping inflammatory features. MEFVThis study suggests that the development of carditis and arthritis in certain patients with acute rheumatic fever may be associated with genetic susceptibility.Highlights What are the main findings? The exon 2 E148Q variant was more frequent in Turkish children with acute rheumatic fever than in healthy controls. MEFVNo significant difference was found between patients and controls in the distribution of exon 10 variants, while E148Q was the most common variant across ARF subgroups. What are the implications of the main findings? MEFVThe E148Q variant may contribute to genetic susceptibility or phenotypic variation in pediatric acute rheumatic fever. variations, particularly E148Q, may deserve consideration in the differential evaluation of Turkish children presenting with acute rheumatic fever and overlapping inflammatory features. MEFVThis study suggests that the development of carditis and arthritis in certain patients with acute rheumatic fever may be associated with genetic susceptibility.Abstract 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.