Ailevi Akdeniz Ateşi Hakkında Bilinenler: Literatür Taraması

Öz

Kalıtsal otoinflamatuar hastalıkların en sık görüleni Ailevi Akdeniz Ateşidir (AAA). Genellikle, AAA bağışıklık düzenlenmesinde yardımcı bir protein olan ve MEFV geninin fonksiyon mutasyonlarının kazanılmasından meydana gelmektedir. Son yıllarda, gelişen teknolojik gelişmeler ile birlkte AAA tanısında, genetik testlerde ve tedavi uygulamalarında önemli ilerlemeler görülmektedir. Özellikle, yeni nesil dizeleme uygulamarı klinik açıdan önemli olan gen varyantlarının ortaya çıkmasına neden olmuştur. AAA, klinik olarak kısa ataklarla karakterize bir hastalık olarak görülse de, yapılan çalışmalarda kronik inflamatuar durum ile ilişkisi gösterilmiştir. AAA tedavisinde erken teşhis ve tedaviye olumlu yanıt hastaların iyileşme sürecinde oldukça önemlidir. Son yıllarda AAA hastalığı üzerine yapılan araştırmalar gittikçe artmaktadır. Bu derlemede, AAA üzerine son dönemde yapılmış olan çalışmaların ve elde edilen bulguların değerlendirlmesi amaçlanmıştır.

Anahtar Kelimeler

• FMF
• MEFV
• Ailevi Akdeniz Ateşi

The Known About Familial Mediterranean Fever: Literature Review

Abstract

The most common hereditary autoinflammatory disease is Familial Mediterranean Fever (FMF). Generally, FMF consists of acquiring function mutations of the MEFV gene, which is an auxiliary protein in immune regulation. In recent years, important advances have been seen in the diagnosis of FMF, genetic tests and treatment practices, together with the developing technological developments. In particular, new generation sequencing applications have led to the emergence of clinically important gene variants. Although FMF is clinically seen as a disease characterized by short attacks, studies have shown its relationship with a chronic inflammatory state. In the treatment of FMF, early diagnosis and positive response to treatment are very important in the recovery process of patients. In recent years, research on FMF has been increasing. In this review, it is aimed to evaluate the recent studies on FMF and the findings obtained.

Keywords

• MEFV
• Familial Mediterranean Fever
• , FMF

Kaynakça

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