{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T04:59:52Z","timestamp":1780635592947,"version":"3.54.1"},"reference-count":45,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T00:00:00Z","timestamp":1780099200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>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\u20133 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\u201335%. 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.<\/jats:p>","DOI":"10.3390\/children13060764","type":"journal-article","created":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T18:08:07Z","timestamp":1780510087000},"page":"764","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Relationship Between Clinical Manifestations of Acute Rheumatic Fever and Mutations in the FMF-Associated MEFV Gene Among Turkish Children"],"prefix":"10.3390","volume":"13","author":[{"given":"Mustafa","family":"Dogan","sequence":"first","affiliation":[{"name":"Department of Pediatric Cardiology, Faculty of Medicine, Kocaeli University, Kocaeli 41380, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Metin","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tekirdag Ya\u015fam Hospital, Tekirdag 59100, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emre","family":"Tepeli","sequence":"additional","affiliation":[{"name":"Department of Genetics, Faculty of Medicine, Istanbul Atlas University, Istanbul 34408, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozlem","family":"Gul","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Diyarbak\u0131r Children\u2019s Hospital, Diyarbakir 21000, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dolunay","family":"Gurses","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, Faculty of Medicine, Pamukkale University, Denizli 20070, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6688-9725","authenticated-orcid":false,"given":"Guven","family":"Yenmis","sequence":"additional","affiliation":[{"name":"Department of Medical Biology, Tayfur Ata S\u00f6kmen School of Medicine, Hatay Mustafa Kemal University, Hatay 31060, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmet","family":"Dokur","sequence":"additional","affiliation":[{"name":"Department of Emergency Medicine, Faculty of Medicine, Bilecik \u015eeyh Edebali University, Bilecik 11000, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,5,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e457","DOI":"10.3928\/19382359-20221006-03","article-title":"Acute Rheumatic Fever","volume":"51","author":"Holloway","year":"2022","journal-title":"Pediatr. 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