title: Clinical Profile of Familial Mediterranean Fever in a Paediatric Population in Eastern Turkey.
abstract: OBJECTIVE
  Clinical and genetic findings of familial Mediterranean fever (FMF) may vary in different populations. Environmental factors may also affect phenotypic features of FMF. In this study, we investigated demographic, clinical and mutational features of FMF patients treated in a single reference hospital in Turkey.
  
  
  METHODS
  One hundred and ninety-seven patients were included. The 11 mutations most frequently seen in FMF were investigated in these patients. Patients were assessed as homozygous, heterozygous, compound heterozygous or non-mutation bearing. Clinical and laboratory examinations in the attack and attack-free periods were recorded. A disease severity score was calculated for each patient.
  
  
  RESULTS
  One hundred patients were female and 97 male. The most commonly seen mutations in our region was M694V (51.7%). The most frequent clinical findings in our patients was gastric pain (90.1%), followed by fever (82.2%). The highest disease severity score was determined in patients with homozygous M694V. Sedimentation values were significantly high in patients with homozygous M694V mutation, while no statistically significant difference was determined among other acute phase reactants and haemoglobin and leukocyte values.
  
  
  CONCLUSIONS
  Changes in acute phase reactants in attack and attack-free periods are used as diagnostic tools in FMF. Severity and frequency of attacks are clearly correlated with mutations. However, the fact that the clinical course can differ even in individuals with mutations reveals the importance of environmental factors.
authors.affiliation: Ataturk University, Faculty of Medicine, Department of Pediatric Nephrology, Erzurum, Turkey.
authors.forename: C
authors.initials: C
authors.lastname: Kosan
authors.affiliation: Ataturk University, Faculty of Medicine, Department of Pediatric Nephrology, Erzurum, Turkey.
authors.forename: N
authors.initials: N
authors.lastname: Diri
authors.affiliation: Regional Training and Research Hospital, Department of Pediatrics, Erzurum, Turkey, E-mail: dratillacayir@gmail.com.
authors.forename: A
authors.initials: A
authors.lastname: Cayir
authors.affiliation: Regional Training and Research Hospital, Department of Pediatrics, Diyarbakır, Turkey.
authors.forename: M I
authors.initials: MI
authors.lastname: Turan
keywords: Acute phase reactants; child; familial Mediterranean fever