title: Prevalence of MEFV gene mutations and their clinical correlations in Turkish children with Henoch-Schönlein purpura.
abstract: OBJECTIVE
  To investigate the frequency of MEFV mutations and their associations with the clinical and laboratory findings in children with Henoch-Schönlein purpura (HSP).
  
  
  METHODS
  One hundred and seven children with HSP were investigated for 12 common MEFV mutations.
  
  
  RESULTS
  Forty-seven patients (43.9%) were found to have one of the MEFV mutations. Eight patients (7.5%) were homozygous for one mutation, 33 (30.8%) were heterozygous for one and six (5.6%) were compound heterozygous for two mutations. There were no age and sex differences between patients with or without mutations. Scrotal involvement was statistically more frequent in patients with mutations. Leucocyte counts, erythrocyte sedimentation rates, serum C-reactive protein (CRP) concentrations, number of patients with increased CRP levels and number of patients with increased immunoglobulin A concentrations were found to be higher in patients with MEFV mutations. p.M694V was the most frequent mutation and was found to have effects on clinical and laboratory findings in children with HSP. Fifteen patients were started on colchicine with the diagnosis of familial Mediterranean fever (FMF).
  
  
  CONCLUSIONS
  MEFV mutations are more frequent in HSP than in the general population, and mutation carriers may have more severe clinical findings with higher inflammatory response, suggesting a dysregulation of the inflammatory response because of defective gene encoding the protein pyrine. Investigation of these mutations may be beneficial to follow-up the susceptible patients more closely leading to early diagnosis and treatment of FMF.
authors.affiliation: Department of Pediatric Nephrology, Dr. Sami Ulus Children's Hospital, Ankara, Turkey.
authors.forename: Cengiz
authors.initials: C
authors.lastname: Bayram
authors.forename: Gülay
authors.initials: G
authors.lastname: Demircin
authors.forename: Ozlem
authors.initials: O
authors.lastname: Erdoğan
authors.forename: Mehmet
authors.initials: M
authors.lastname: Bülbül
authors.forename: Aysun
authors.initials: A
authors.lastname: Caltik
authors.forename: Sare G
authors.initials: SG
authors.lastname: Akyüz
mesh_terms: D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D011695:IgA Vasculitis / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D014421:Turkey
chemical_list: D003598:Cytoskeletal Proteins