Ailevi Akdeniz Ateşi Hastalarında Gen Mutasyonlarının Hastalık Ciddiyet Skorları Üzerine Etkisi

Year 2022, Volume: 32 Issue: 1, 19 - 26, 28.02.2022

Vildan Güngörer Alaaddin Yorulmaz Şükrü  Arslan

https://doi.org/10.54005/geneltip.1002843

Abstract

Amaç: Ailevi Akdeniz Ateşi (AAA) kendi kendini sınırlayan otoinflamatuar bir hastalıktır. Hastalıkların prognozunu daha iyi anlamak için çeşitli klinik kriterlerin bir kombinasyonuna göre puanlanan hastalık şiddeti skorları kullanılır. Bu çalışmanın amacı, AAA’lı çocuklarda genetik mutasyonların hastalık şiddeti skorlarına etkisini belirlemektir.
Gereç ve Yöntemler: Yalçınkaya-Özen tanı kriterlerine göre FMF tanısı konan ve gen analizi yapılan 0-18 yaş arası 303 hasta retrospektif olarak değerlendirildi. Tüm hastalara Pras ve arkadaşlarının skorlama sistemi, Mor ve arkadaşlarının skorlama sistemi ve Uluslararası FMF şiddet skoru (ISSF) skorlama sistemi uygulandı. Genotipler hastalık şiddeti skorlarına göre karşılaştırıldı.
Bulgular: Hastalar Pras ve ark. skoruna göre M694V homozigot, heterozigot, M694V/diğer allel kombine heterozigot ve diğer mutasyonlar olarak 4 gruba ayrıldığında M694V homozigot grubunda hafif hastalık sıklığı daha az olma eğilimindeydi. Pras ve ark.'nın skoruna göre hastalar homozigot M694V, heterozigot M694V, heterozigot E148Q ve heterozigot M694V/M680I kombine mutasyonlar olarak ayrıldığında, homozigot M694V grubunda hafif hastalık daha az yaygın olarak bulundu. Hastalar homozigot M694V grubu ve heterozigot M694V grubu olarak ikiye ayrıldığında, üç skorlama sistemine göre homozigot M694V grubunda hastalık daha şiddetliydi.
Sonuçlar: Pras ve ark. tarafından tanımlanan skorlama sistemine göre, homozigot M694V alleli olan hastalarda şiddetli hastalık oranı, homozigot grupla karşılaştırıldığında heterozigot grupta istatistiksel olarak anlamlı derecede daha yüksekti.

Keywords

Ailevi Akdeniz Ateşi, genotip, hastalık şiddet skorları, klinik, tedavi

The Effect of Gene Mutations on Disease Severity Scores in Pediatric Familial Mediterranean Fever Patients

Abstract

Objectives: Familial Mediterranean Fever (FMF) is a self-limiting autoinflammatory disease. In order to better understand the prognosis of diseases, disease severity scores are used. The aim of this study is to determine the effect of genetic mutations on disease severity scores in children with FMF.
Methods: 303 patients between the ages of 0-18, who were diagnosed with FMF according to Yalçınkaya-Özen diagnostic criteria and whose gene analysis was studied, were evaluated retrospectively. Pras et al's scoring system, Mor et al's scoring system and International severity score of FMF (ISSF) scoring system were applied to all patients. Genotypes were compared according to disease severity scores.
Results: When the patients were divided into 4 groups as M694V homozygous, heterozygous, M694V/other allele combined heterozygous and other mutations, according to the score of Pras et al., the frequency of mild disease tended to be less in the M694V homozygous group. When the patients divided as homozygous M694V, heterozygous M694V, heterozygous E148Q, heterozygous M694V/M680I combined mutations, according to the score of Pras et al., mild disease was found to be less common in the homozygous M694V group. When patients were divided into homozygous and heterozygous M694V groups, the disease was more severe in the homozygous M694V group according to the three scoring systems.
Conclusions: Based on the scoring system described by Pras et al., the rate of severe disease was higher in patients with homozygous M694V allele, whereas the rate of mild disease was statistically significantly higher in the heterozygous group compared with homozygous group.

Keywords

Familial Mediterranean Fever, genotype, disease severity scores, clinic, treatment

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