PW01-024 – Phenotypic analysis of a MEFV negative FMF cohort
نویسندگان
چکیده
منابع مشابه
PW01-024 – Phenotypic analysis of a MEFV negative FMF cohort
Introduction Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder, ethnically restricted and commonly found among individuals of Mediterranean descent, caused by MEditerranean FeVer gene (MEFV) mutations on the chromosome 16. It is the most frequent periodic febrile syndrome among autoinflammatory syndromes. Eighty % of patients with FMF have MEFV mutations, while aro...
متن کاملPW01-014 – MEFV methylation analysis in FMF and JRA diseases
Introduction MEFV is the first identified autoinflammatory gene related to Familial Mediterranean Fever (FMF) disease. We previously the tested the hypothesize of epigenetic involvement in FMF, mainly based on the occurrence of FMF in patients without mutations and decreased MEFV transcripts in leukocyte samples independent from mutations. Our study showed that higher methylation level of MEFV ...
متن کاملPW01-032 – FMF-like state: genetic factors unrelated to MEFV
Introduction FMF is considered an autosomal recessive autoinflammatory syndrome caused by single gene (MEFV) mutations. Recently, it has been known that also heterozygous mutation carriers can suffer from a mild or incomplete form of FMF, named FMF-like disease. Among Armenians, who have relatively high carrier rate of MEFV mutations, single mutation has been detected in about 1/5 of symptomati...
متن کاملPW01-012 – Canakinumab in patients with FMF
Results There were 19 patients with FMF (13 F/6 M) who were receiving canakinumab for various indications. Here we report 10 (6 F/4 M) who had at least 3 injections. Three patients had concomitant diseases such as psoriasis, ankylosing spondylitis and polyarteritis nodosa. The indications for canakinumab (150mg) were colchicine resistancy in 7 patients (>1 attack/month), amyloidosis in 2 and in...
متن کاملPW01-018 – Circulating endothelial biomarkers in FMF
Methods Forty FMF patients and eighteen healthy controls with no known cardiovascular risk factors were included. All patients were receiving regular colchicine treatment and examinations were performed during attack-free periods. Serum samples were used for the determination of high sensitive C-reactive protein (hs-CRP), tissue factor (TF), tissue plasminogen activator (t-PA) and osteoproteger...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a77