The Effect of M694V Mutation on Clinical Presentation and Acute Phase Response in Children with Familial Mediterranean Fever: Single Center Experience in Western Turkey

作者：Anil Murat^*; Anil Ayse Berna; Ertaner Derya; Bal Alkan; Yavascan Onder; Aksu Nejat; Dogu Zeynep Filiz Eren

来源：Turkiye Klinikleri Tip Bilimleri Dergisi, 2011, 31(6): 1410-1417.

DOI：10.5336/medsci.2010-20628

• Familial Mediterranean Fever
• acute-phase reaction
• genotype
• child
• Turkey

Objective: The aim of this study was to investigate the phenotype-genotype correlation and the relationship between clinical severity score and acute phase response in children with familial Mediterranean fever (FMF) in Western Turkey. Material and Methods: The medical records of 87 FMF children (mean age: 11.1 +/- 3.6 years; range: 3-20 years; mean age at diagnosis: 8.3 +/- 3.5 years; mean follow up: 31.2 +/- 27.7 months; female: 55.2%) mutations on MEFV gene were retrospectively reviewed. We used Tel Hashomer diagnostic criteria and severity score. Correlations between white blood cell (WBC), C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) during attack-period as well as clinical severity scores were investigated. The patients were grouped according to one or two alleled mutations and the presence of the M694V mutation. Clinical parameters and WBC, CRP and ESR levels were compared among the groups. Results: M694V homozygosity was found in 22 patients (25.3%). Amyloidosis was seen in six patients (6.9%). All of them had M694V homozygote mutation. The measured WBC (r=0.294; p: 0.006), CRP (r=0.720; p<0.001) and ESR (r=0.716; p<0.001) values were correlated with clinical severity score. The presence of two mutated alleles or M694V homozygosity was associated with a higher clinical severity score, higher levels of WBC, CRP and ESR as well as higher risk of amyloidosis compared to the others (p<0.05). Conclusion: M694V homozygote genotype shows higher acute phase response during attack-period and severe clinical course in children with FMF in Western region of Turkey.

• 出版日期2011-12