P01-032 – Characterization of genetic-negative FMF
نویسندگان
چکیده
منابع مشابه
P01-032 – Characterization of genetic-negative FMF
Methods In this observational comparative study, 47 sequential genetic negative FMF patients and 78 sequential genetic positive (for at least one allele) FMF control patients were compared using a comprehensive questionnaire completed at the time of their routine clinic visit, using direct questioning and patients’ files. The definition of FMF was based on our clinical tool, widely accepted for...
متن کاملP01-037 – Genetic analysis practice prior to FMF diagnosis
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 ...
متن کاملP01-043 – Comparative characteristic of FMF and FMF with HSP
Methods Clinical studies conducted in 61 non complicated of amyloidosis FMF children in the Republican FMF Children Center, Center “Arabkir”. The age of the patients varies from 5-15. Three patients of FMF are accompanied with HSP. We are selected as a control group of 11 healthy people in practice.Biochemical studies carried out in Hematological Center of Armenia. In erythrocytes of membrane w...
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 کاملP01-018 – An earliest diagnosis of FMF
Introduction Familial Mediterranean fever (FMF) is an autosomal recessive disease, mainly affecting Jews, Armenians, Turks, Arabs and other groups living around Mediterranean basin. Major symptoms of disease are recurrent periodic fever accompanied by serositis. The disease is usually diagnosed at ages less than 20 years. Onset of the disease at older age can rarely occur. Symptoms related to F...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a36