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Clinical and demographic characteristics of children with familial mediterranean fever in Central Anatolia

Authors
Journal
Pediatric Rheumatology
1546-0096
Publisher
Springer (Biomed Central Ltd.)
Publication Date
Volume
9
Identifiers
DOI: 10.1186/1546-0096-9-s1-p11
Keywords
  • Poster Presentation
Disciplines
  • Biology
  • Medicine

Abstract

Clinical and demographic characteristics of children with familial mediterranean fever in Central Anatolia POSTER PRESENTATION Open Access Clinical and demographic characteristics of children with familial mediterranean fever in Central Anatolia Onur Akin1*, Erkan Demirkaya1, Adem Polat1, Ezgi Deniz Batu2, Yusuf Tunca3, Cengizhan Acikel4, Harun Peru5, Betul Sozeri6, Ismail Dursun7, Hakan Poyrazoglu8, Faysal Gok1, Seza Ozen2, for the FMF Arthritis Vasculitis and Orphan Disease Research in Paediatric Rheumatology (FAVOR) From 18th Pediatric Rheumatology European Society (PReS) Congress Bruges, Belgium. 14-18 September 2011 Objective This study investigates the clinical and demographic characteristics of Turkish familial Mediterranean fever (FMF) patients and relationship between these charac- teristics and genotype. Methods 115 girls and 143 boys were included in this study. The clinical data of patients were collected from six centers. Genetic analysis was performed using polymerase chain reaction and restriction endonuclease digestion methods to detect the presence of eight FMF gene mutations. Results The mean age of disease onset was 5.1 ± 3.6 years and the mean age at diagnosis was 7.3 ±3.1 years. The mean number of attacks per year was 7.7 ± 7.8, the mean duration of attacks 1.7 ± 1.6 days. The most common clinical manifestations were fever (91.6%) and abdominal pain (90.3%). The other manifestations were arthralgia (44.1%), arthritis (18.6%), headache (17.3%), myalgia (15.6%), vomiting (11%), chest pain (6.8%), splenomegaly (5.5%), diarrhea (5.5%) and erisipelas like eritema (3.4%). Amyloidosis (1.8%) and proteinuria (1.8%) were also determined. Most of patients had compound heterozy- gote genotype (n=86, 28.6%) and the most common homozygote mutation was M694V homozygosity (n=65, %21.6). The frequency of headache in the patients with homozygote M694V mutation (n=18, %29.5) and the frequencies of arthritis in patients with homozygote E148Q (n=1, %33.3) and M694V mutatio

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