Clinical and subclinical features and MEFV mutation distribution in of FMF patients’ siblings
نویسندگان
چکیده
Objective Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of fever and peritonitis, pleuritis, arthritis or an erysipelaslike skin disorder. The disease may present at any age, more than 80% of patients being symptomatic by the age of 20 yr. Its main long-term complication is amyloid A (AA) amyloidosis, a severe manifestation with poor prognosis. Mutations in the MEFV gene, on chromosome 16, is encoding a protein named as pyrin. We aim to analyze clinical characteristics, subclinical inflammation, and carried MEFV mutation in siblings with FMF.
منابع مشابه
MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever
Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive inheritance pattern often seen around the Mediterranean Sea. It is characterized by recurrent episodes of fever and polyserositis and rash. Recently, MEFV gene analysis determines the definitive diagnosis of FMF. In this study, we analyzed 12 MEFV gene mutations in more than 200 FMF patients, pr...
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