Araştırma Makalesi
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The MEFV variants in patients with familial Mediterranean fever and their clinical correlations

Yıl 2019, Cilt: 52 Sayı: 2, 162 - 166, 31.07.2019

Öz




Background: Familial Mediterranean Fever (FMF) is the
most common auto-inflammatory disease characterized by recurrent attacks. FMF
was found to be correlated with the mutation in MEFV gene. The mutation in the
MEFV gene located at the short arm of the 16th chromosome impairs the encoding
of the pyrin protein. Until now, numerous variants of the MEFV gene have been
identified. Patients with M694V homozygous mutation have been reported to have
a more severe disease. However, there is no clear study of clinical correlation
in other variants. In this study, we aimed to investigate the frequency and
clinical correlation of MEFV gene variants.




 




Methods: Electronic
medical records of FMF cohort were retrospectively analyzed. FMF cohort was
established in year 2010 and since then all patients who fulfilled Tel-Hashomer
criteria
Demographic
information, attack characteristics, treatment information and MEFV gene
outcomes of the patients were analysed using the records. In MEFV gene
analysis, M694V, M694I, M680I, V726A, R761H, A744S, F479L, P369S, R202Q and
E148Q variants are evaluated.




 




Results: A total of 605 patients were included in
the study. In patients who had M694V mutation, arthritis and erysipelas were
observed more frequently (p=0.04, p=0.008). Increased family history of FMF was
identified in patients with M694V mutation (p<0.001).  In patients with M694V mutation, it was found
that age of onset of FMF symptoms, age of diagnosis, and age of treatment
initiation were younger (p=0.003, p=0.014, p=0.025). In patients with M694V homozygous,
frequency of amyloidosis was higher (p<0.001). The risk of developing
amyloidosis was higher in M694V homozygous (Odds ratio 7.46, 95% confidence
interval: 2.92-19.05).




Conclusions: In conclusion, homozygous M694V mutation
leads to severe disease. There was no clinical variability in other MEFV gene
variants.




Kaynakça

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Toplam 29 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Bölüm Araştırma Makalesi
Yazarlar

Özkan Varan

Hamit Küçük Bu kişi benim

Hakan Babaoğlu

Nuh Ataş Bu kişi benim

Reyhan Bilici Salman Bu kişi benim

Hasan Satış Bu kişi benim

Mehmet Akif Öztürk Bu kişi benim

Şeminur Haznedaroğlu Bu kişi benim

Berna Göker Bu kişi benim

Abdurrahman Tufan

Yayımlanma Tarihi 31 Temmuz 2019
Gönderilme Tarihi 4 Ocak 2019
Yayımlandığı Sayı Yıl 2019 Cilt: 52 Sayı: 2

Kaynak Göster

AMA Varan Ö, Küçük H, Babaoğlu H, Ataş N, Bilici Salman R, Satış H, Öztürk MA, Haznedaroğlu Ş, Göker B, Tufan A. The MEFV variants in patients with familial Mediterranean fever and their clinical correlations. Ankara Eğitim ve Araştırma Hastanesi Tıp Dergisi. Temmuz 2019;52(2):162-166.