PW01-037 – Amyloidosis probability depending on MEFV type
نویسندگان
چکیده
Methods 69 FMF patients (37 with amyloidosis, 32 – without amyloidosis) were investigated. All 69 patient underwent molecular-genetic investigation (PCR method), 9 different mutant combinations of MEFV gene were detected: 3 homozygous M694V/M694V(AA) in 25 patients, M680I/ M680I(CC) in 4, V726A/V726A(BB) in 1, 5 compound heterozygous M694V/V726A(AB) in 17, M694V/M680I (AC) in 9, V726A/M680I(BC) in 5, V726A/R761H(BD) in 1, M680I/R761H(CD) in 1, and 1 heterozygous M694V/ U(AU) in 6 patients.
منابع مشابه
PW01-016 – Are different disease subtypes present in FMF
Introduction Familial Mediterranean fever (FMF) is an auto-inflammatory disorder characterized by self limited attacks of fever and serositis. The disease expression may be different in different ethnic groups and patients with certain MEFV mutations may be prone to have more severe disease and a greater probability of developing amyloidosis (1). Recently we showed that amyloidosis is the only ...
متن کاملPW01-024 – 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 کاملPW01-019 – MEFV gene mutations in 53 periodic fever patients
Methods We collected clinical and laboratory data from periodic fever patients followed at our center from the beginning of 2006 to the end of 2012. Results of genetic testing for MEFV gene mutations were also collected. Genetic testing was performed in Genetic laboratory of University Children’s Hospital Ljubljana. All 10 exons and exon/ intron regions of MEFV gene were directly sequenced with...
متن کاملPW01-003 – Frequency of MEFV mutations in Turkish population
Introduction Data on the epidemiology of familial Mediterranean fever (FMF) and the prevalence of disease causing mutations among different ethnic groups and geographical regions around the world are insufficient. The prevalence of mutations that account for FMF in Turkey has been defined in the past by determining the frequency of MEFV mutations in affected individuals or in hospital-based con...
متن کامل