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Ailevi Akdeniz Ateşi, Poliarteritis Nodosa ve Mefv Mutasyonları

Familial Mediterranean Fever, Polyarteritis Nodosa and Mefv Mutations

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DOI: 
DOI 10.5262/tndt.2013.1001.09

Keywords (Original Language):

Abstract (2. Language): 
OBJECTIVE: The aim of this study was to perform a systematic review of the relevant literature aiming to assess the role of MEFV mutations on FMF-associated PAN. MA TERIAL and M ETHODS: We conducted a comprehensive review of the literature with an attempt to analyze cumulated data regarding the role of MEFV mutations in the development of FMFassociated PAN. RESUL TS: We found a total of 96 cases with FMF and PAN. MEFV mutations were available only in 28 patients of whom 26 have been reported from Turkey. Twenty-five (89 %) of the 28 patients had at least one M694V allele and 13 (46%) of them had the homozygous M694V genotype. CONCLU SION: Since M694V is accepted to be associated with more severe inflammation as compared to other mutations, one can speculate that this enhanced inflammation may predispose to PAN and MEFV mutations and probably contribute to the risk of developing PAN in areas where FMF is endemic. In addition, MEFV mutations, particularly M694V, might be searched in patients from certain ethnic groups, especially in young patients having PAN without any predisposing disease.
Abstract (Original Language): 
AMAÇ: Bu çalışmanın amacı, ilgili konuda MEFV mutasyonlarının ile AAA ilişkili PAN üzerindeki rolünü sistematik bir gözden geçirme yaparak değerlendirmektir . GEREÇ ve YÖN TEML ER: MEFV mutasyonlarının ile AAA ilişkili PAN gelişimindeki rolünü anlamak amacı ile ayrıntılı bir literatür taraması yaptık. BUL GULA R: AAA ile ilişkili toplam 96 PAN vakası bulduk. MEFV mutasyonları sadece 26’sı Türkiye’den 28 hastada vardı. 28 hastanın 25’inde (%89) en az bir M694V alleli vardı. 13 hasta ise homozigot M694V genotipi idi. SONU Ç: M694V diğer mutasyonlara kıyasla daha şiddetli inflamasyonla ilişkili olduğu için, bu artmış inflamasyonun PAN’a yatkınlık hazırlayacağı ve MEFV mutasyonlarının AAA’nin endemik olduğu bölgelerde PAN gelişimine muhtemelen katkıda bulunabileceği düşünülebilir. Ayrıca, MEFV mutasyonları, özellikle M694V, belli etnik gruplarda, özellikle herhangi bir yatkınlaştırıcı hastalığı olmayan genç PAN hastalarında araştırılabilir.

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