Bu çalışmada, Ailevi Akdeniz ateşi (FMF) hastalığı olan radyografik ve olmayan aksiyel spondiloartrit (aks-SpA) hastaları arasında, Ateşi (MEFV) gen mutasyonlarının FMF ilişkili klinik bulguların karşılaştırılması amaçlanmıştır. Çalışmada Ocak 2015-Temmuz 2020 tarihleri arasında tanısı ile takip edilmekte hastaların dosyaları retrospektif olarak incelendi. Hastaların genetik tetkikleri, bulgula...

Purpose: Mutations in the Mediterranean FeVer (MEFV) gene, which causes familial fever (FMF), may also cause emergence of other specific rheumatic diseases. This study aims to determine frequency rheumatologic diseases paediatric FMF patients, evaluate whether there are clinical and genetic differences between those with without concomitant diseases, compare data previous studies.
 Materia...

BACKGROUND/AIM To define the frequency of familial Mediterranean fever gene (MEFV) mutations in ankylosing spondylitis (AS) and describe different clinical aspects of MEFV mutation carrier and noncarrier AS patients. MATERIALS AND METHODS In 112 AS patients, Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and Bath Ankylosing Spondylitis Functional Index (BASFI) scores were calcula...

Henoch-Schonlein Vasculitis (HSV) is systemic small vessel vasculitis involving the skin, kidney, joints, and gastrointestinal tract. The proportion of patients reported to have renal involvement varies between 20% and 80%. Rapidly progressive glomerulonephritis (RPGN)is rare syndrome in children, characterized by clinical features of glomerulonephritis (GN) and rapid loss of renal function. We...

Results At colchicine prescription, genetic results were not available for 229/681 patients (34%). A typical phenotype was significantly more common in this subgroup than in patients with genetic testing at prescription (212/229, 92%, vs. 260/452, 58%, OR=9.2 95% CI 5.4-15.6, p=0.0001). Of note, despite the high frequency of typical phenotype in this group, the rate of 2 pathogenic variants of ...

OBJECTIVE To evaluate the frequency of 5 mutations and their relationship with the Tel Hashomer criteria in 85 FMF patients. METHODS We looked for mutations in the Mediterranean fever (MEFV) gene in 84 consecutive patients who admitted to the Department of Medical Genetics of Afyon Kocatepe University, with a variable (from high to low) clinical suspicion of FMF. By using polymerase chain rea...

Familial Mediterranean fever (FMF) is a disease characterized by recurrent, self-limiting bouts of fever and serositis and caused by altered pyrin due to mutated MEFV gene. FMF is common in the Mediterranean Basin populations, although with varying genetic patterns. The spectrum and clinical significance of MEFV alterations in Greece has yet not been elucidated. The aim of this study was to ana...

©2017 Turkish League Against Rheumatism. All rights reserved. ABSTRACT Objectives: This study aims to investigate if cardiac involvement may occur in children with familial Mediterranean fever (FMF) without cardiovascular symptoms by using heart rate recovery (HRR) and systolic blood pressure recovery (SBPR) parameters. Patients and methods: A total of 50 FMF patients (26 males, 24 females; mea...

Background: Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder caused by the MEFV gene variants. Although association between FMF and spondyloarthritis (SpA) has previously been reported, clinical laboratory features of patients with SpA have not defined in detail. Objectives: We aimed to evaluate characteristics, disease outcome biologic responses FMF+SpA compared onl...