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Dergiler / Meandros Medical And Dental Journal / 2019 / Cilt: 20 - Sayı: 3

Patients with FMF Associated Spondyloarthropathy Who Has Heterozygous M694V Mutation: A Case Report

Ayşe Beyhan Lale CERRAHOĞLU
Kezban Armağan ALPTÜRKER
Sayfa
254–258
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

In this article, we present a case of a patient with heterozygous M694V mutation FMF and SpA combination.

📌 3 Maddede Bu Makale

🎯
Amaç & Hipotez:Familial Mediterranean Fever (FMF) is the most common Periodic Fever syndrome characterized by attacks like serositis and fever.
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Temel Bulgular & Veri:FMF is an autosomal recessive disease caused by MEFV gene mutations which located on 16p13.3.
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Sonuç & Katkı:In this article, we present a case of a patient with heterozygous M694V mutation FMF and SpA combination.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Özet

Familial Mediterranean Fever (FMF) is the most common Periodic Fever syndrome characterized by attacks like serositis and fever. FMF is an autosomal recessive disease caused by MEFV gene mutations which located on 16p13.3. Spondyloarthropathy (SpA) is a chronic rheumatic disease characterized by inflammation in axial and peripheral joints with enthesitis and extraartricular involvements. One of the major criteria of SpA is sacroiliitis that can be described rarely in FMF patients. M694Vmutation has been frequently seen mutation in FMF patients; also it has been associated with SpA. In this article, we present a case of a patient with heterozygous M694V mutation FMF and SpA combination.

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Bu Makaleye Atıf Yap

CERRAHOĞLU, A. B. L., ALPTÜRKER, K. A. (2019). Patients with FMF Associated Spondyloarthropathy Who Has Heterozygous M694V Mutation: A Case Report. Meandros Medical And Dental Journal, Cilt: 20 - Sayı: 3, 254–258. https://ajindex.com/articles/282962

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