Dutch type periodic fever in a Turkish infant also having MEFV mutation
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منابع مشابه
Dutch type periodic fever in a Turkish infant also having MEFV mutation
Case report A seven-month-old Turkish boy was consulted to Pediatric Rheumatologist for evaluation of periodic fever. He experienced fever episodes since two months following birth once or twice a month, lasting for 2–4 days. He had been hospitalized for 4 times to identify the etiology of fever. Conjunctivitis without periorbital edema and diarrhea accompanied almost every attack. In one of th...
متن کاملCommon MEFV mutation analysis in Iranian Azeri Turkish patients with familial Mediterranean fever.
OBJECTIVES To identify the frequency and distribution of familial Mediterranean fever (FMF) gene (MEFV) mutations among Azeri Turkish patients from northwestern Iran. METHODS One hundred ninety unrelated patients were referred by specialists to the Molecular-Medical Genetic Center of Tabriz. A clinical diagnosis of FMF was made according to published criteria. Mutation screening of the MEFV g...
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 کاملMevalonate kinase deficiency and Dutch type periodic fever.
Dutch type periodic fever (DPF) is an autosomal recessive hereditary fever syndrome. Cases have been reported worldwide, the majority from France and The Netherlands. From infancy the patients suffer fever attacks that recur every 2-8 weeks, often precipitated by immunizations, infections or emotional stress. Fever lasts 2-7 days and can be accompanied by malaise, headache, diarrhea, abdominal ...
متن کاملImpact of MEFV genotype in Caucasian children with periodic fever
Methods 113 caucasian patients carrying MEFV mutations (46 with mutations in two alleles, 67 heterozygous) and 205 genetically negative patients for MEFV, TNFSF1A and MEFV (70% with a PFAPA phenotype) were analyzed. The following groups were considerd: patients with: i) 2 high penetrance mutations (M694V, M694I, M680I), ii) 1 high, 1 low penetrance mutation, iii) 2 low penetrance mutations, iv)...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2008
ISSN: 1546-0096
DOI: 10.1186/1546-0096-6-s1-p201