Şebnem ÖZEMRİ SAĞ, Niyazi KAYA, Şehime Gülsün TEMEL, Adem ALEMDAR, Lamiya ALİYEVA

AİLESEL AKDENİZ ATEŞİ HASTALARINDA MEFV GEN MUTASYONUNUN SIKLIĞI VE DAĞILIMI: TEK MERKEZ DENEYİMİ

Amaç Ailesel Akdeniz Ateşi (FMF) olası tanısı olan hastalarda MEFV gen mutasyon varyantlarının sıklığı ve dağılımını değerlendirmeyi amaçladık. Gereç ve Yöntem Eylül 2018 ve Eylül 2019 arasında FMF hedef mutasyon analizi yapılan hastalar retrospektif olarak incelendi. Yirmi altı farklı MEFV gen mutasyon varyantı incelendi. Çalışma katılımcılarının demografik ve klinik verileri hasta listelerinden ve hastane elektronik veri tabanı sisteminden toplanmıştır. Bulgular Refere edilen 910 hastanın 350'sinde (%38.5) FMF mutasyonu pozitif bulundu. Toplamda, MEFV geninde 41 farklı genotip ve 26 farklı mutasyon tespit ettik. En yaygın mutasyon ve genotip sırasıyla M694V ve heterozigot M694V idi. İki yüz yetmiş altı hastada (%78.9) tek bir mutasyon vardı. Yetmiş dört hastada bileşik heterozigot mutasyon vardı (%21.1). En yaygın bileşik heterozigot mutasyon P369S/R408Q (%23.3) idi. Beş kurucu mutasyon, tespit edilen tüm mutasyonların yüzde yetmiş beşini oluşturdu. Genel olarak diğer çalışmalarda incelenmeyen nadir mutasyonlar 15 hastada (%4.2) iki farklı bileşik heterozigot genotip formunda mevcuttu. Bu nadir mutasyonların toplam alel sıklığı %5 idi. Sonuç Bu çalışmada, MEFV mutasyonlarının genişletilmiş bir panelini inceledik ve literatürde Türk hastalarda yapılan önceki çalışmaların çoğundan daha kompleks genotipler tespit ettik.

FREQUENCY AND DISTRIBUTION OF MEFV GENE MUTATION IN FAMILIAL MEDITERRANEAN FEVER PATIENTS: A SINGLE CENTER EXPERIENCE

ObjectiveWe aimed to evaluate frequency and distributionMEFV gene mutation variants in patients with presumptive diagnosis of Familial Mediterranean Fever(FMF). Material and MethodsPatients who had undergone FMF targeted mutationanalysis between September 2018 and September2019 were retrospectively analyzed. Twenty-six distinct MEFV gene mutation variants were studied. Demographic and clinical data of study participants werecollected from patient charts and hospital electronicdatabase system.ResultsOut of 910 referred patients, 350 (38.5%) were foundto have a positive FMF mutation. In total, we detected 41 different genotypes and 26 different mutations in the MEFV gene. The most common mutationand genotype were M694V and heterozygous M694V,respectively. Two hundred and seventy-six patients(78.9%) had a single mutation. Seventy-four patientshad compound heterozygous mutation (21.1%). Themost common compound heterozygous mutationswere P369S/R408Q (23.3%). Five founder mutationsconstituted the seventy-five percent of the all mutations detected. Rare mutations that generally not examined in other studies were present in 15 patients(%4.2) in the form of two different compound heterozygous genotype. The total allele frequency of theserare mutations was 5%.ConclusionIn this study, we examined an extended panel ofMEFV mutations and detected more complex genotypes than most of the previous studies conducted inTurkish patients in the literature.

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