PW01-033 – Phenotype – genotype in Armenian children with FMF
نویسندگان
چکیده
منابع مشابه
PW01-033 – Phenotype – genotype in Armenian children with FMF
Introduction Familial Mediterranean Fever (FMF) is an ethnic disease for Armenian population and represents a significant health care problem. Frequency of carriers of MEFV mutations is 1:3, and the prevalence of FMF is rather high (14-100:10000). During the period between 2003 and 2012 there was a 4.5-fold increase of the total number of children with FMF. Many of these cases have severe clini...
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 کاملP01-042 – Joint involvement in Armenian children with FMF
Introduction Familial Mediterranean Fever (FMF) as an ethnic disease is wide-spread in Armenia. In most cases FMF manifests in childhood. Joint involvement is the third major FMF manifestation. It usually presents as acute recurrent arthritis (ARA), arthralgia, more rare chronic arthritis (Juvenile Idiopathic Arthritis, JIA), which are important to better learn more about the overlap between th...
متن کاملP01-045 – Epilepsy in Armenian children with FMF
Methods We observed 2300 patients with FMF (1408 boys and 892 girls; mean age: 8.86±0.29) in the National Pediatric Centre for FMF. Diagnosis of FMF was based on Tel-Hashomer criteria and MEFV genetic analysis. The epilepsy was diagnosed based on clinical manifestations (>2 unprovoked epileptic seizures),neurological history, exam, EEG and MRI. The statistical analysis was performed using Epi-I...
متن کاملPW01-021 – The phenotype of FMF due to deletion M694
Results A total of 19 patients (11 M:8 F) had been found to carry the Del M694 variant. Clinical details were available on 16 patients who had been assessed at our centre. 13 were of white British ancestry, the other 3 were of Irish ancestry. 2 patients gave no relevant family history, 1 was adopted and unaware of any family details, 10 patients (from 5 kindreds) gave a history of similar sympt...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a86