Aydın F

Ankara University

ORCID Profile OpenAlex Profile
2
Publications
15
h-index
(803 citations, 125 total works)

Research Topics

Inflammasome and immune disorders (37) Autoimmune and Inflammatory Disorders Research (20) Ocular Diseases and Behçet’s Syndrome (16) Vasculitis and related conditions (15) Kawasaki Disease and Coronary Complications (15)

PFAPA Syndrome Publications

Clinical spectrum of pediatric patients carrying heterozygous MEFV gene variants.

Erorhan E, Avar Aydın PÖ, Aydın F, Bahçeci O, Sarısoy D , et al.
European journal of pediatrics •

The MEditerranean FeVer (MEFV) gene is a critical regulator of the innate immune response. The prototypical disease related to the MEFV gene is familial Mediterranean fever (FMF). Heterozygous MEFV gene variants have increasingly been reported in association with a wide range of inflammatory disorders besides FMF. The aim of this study was to evaluate the diagnostic spectrum and clinical and demographic findings of patients carrying heterozygous MEFV variants. This retrospective study included pediatric patients carrying heterozygous MEFV variants who were followed up at our center between January 2012 and January 2025. Diagnosis, demographics, and clinical manifestations were reviewed. A total of 270 patients with a median age of 7 years were identified. The diagnoses of the study population included FMF (67%), IgA vasculitis (7%), PFAPA syndrome (6%), inflammatory bowel disease (3%), juvenile idiopathic arthritis (3%), chronic nonbacterial osteomyelitis (2%), Behçet's disease (1%), and other vasculitides (1%). Fourteen percent of the patients were asymptomatic carriers. During follow-up, 22 of the 74 patients (30%) initially diagnosed with other inflammatory conditions later developed clinical features consistent with FMF. Colchicine therapy was initiated not only for typical attacks of FMF but also for selected indications in other inflammatory diseases. Heterozygous MEFV variants have been reported to be associated with various inflammatory diseases besides FMF. Long-term follow-up is essential, as some patients may later develop FMF. MEFV gene testing should be considered in other inflammatory diseases with severe or atypical manifestations, particularly in populations where FMF is highly prevalent. •  Heterozygous MEFV variants have been associated with FMF and several inflammatory diseases. • This large pediatric cohort demonstrates that heterozygous MEFV variants may be encountered across a broad spectrum of inflammatory diseases, and some patients initially diagnosed with other conditions may subsequently develop FMF during follow-up.

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Performance of the new Eurofever/PRINTO classification criteria in Familial Mediterranean fever patients with a single exon 10 mutation in childhood.

Aydın F, Kurt T, Sezer M, Tekgöz N, Ekici Tekin Z , et al.
Rheumatology international •

The diagnosis of Familial Mediterranean fever (FMF) based on clinical findings supported by genetic mutation. Recently, the new Eurofever/PRINTO classification criteria including genetic analysis were established. The aim of this study is to evaluate the performance of the new criteria in FMF patients with a single exon 10 mutation in childhood. The study group consisted of FMF patients who had a single exon 10 mutation in a referral center in Turkey. Patients with periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome were included as a control group. The medical charts of all patients were reviewed retrospectively. A total of 106 FMF patients (59 boys) were enrolled in the study group. The median age at first symptom was 5; the median age at diagnosis was 7 years. The mean follow-up was 33 ± 35.4 months. Majority of the patients (n = 58, 54.7%) had heterozygous M694V, 16 (15%) patients had M694V/E148Q and 13 (13.8%) patients had heterozygous M680I mutation. The sensitivity of the Yalcinkaya-Ozen criteria was 98.1% and it was 97.1% for the Eurofever/PRINTO classification criteria. The specificity of the new Eurofever/PRINTO classification criteria was 96.7% and it was 74.1% for the Yalcinkaya-Ozen criteria. The new Eurofever/PRINTO classification criteria have a good sensitivity as the Yalcinkaya-Ozen criteria in patients with a single exon 10 mutation. Additionaly, the new criteria have better specificity. It should be useful to apply the clinical only criteria where the carrier rate is high.

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