PW01-021 – The phenotype of FMF due to deletion M694
نویسندگان
چکیده
منابع مشابه
PW01-021 – 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...
متن کاملPW01-033 – 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 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...
متن کاملPW01-030 – Pulmonary manifestations of FMF
Methods The study cohort involved 155 FMF patients (male/female 87/68). Mean age was 33,6±11,8 years in the patients group without renal amyloidosis (45 men, 35 women, n=80) and 37,8±7,4 years in the patients group with amyloidosis (42 men, 33 women, n=75). All the patients had symptoms related to the respiratory system, such as pleuritic chest pain with or without cough, dyspnea, chest tightne...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a74