title: Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever.
abstract: BACKGROUND
  Familial Mediterranean fever (FMF) is one of the most frequent genetic diseases encountered in the Mediterranean region. We aimed to investigate the correlation between genetic mutations and the clinical findings in 562 patients with FMF.
  
  
  METHODS
  In this retrospective cross-sectional study conducted with patients' files between 2006, and 2013, reverse hybridization assay for MEFV gene mutations was used and the 12 most frequent mutations were screened. Mutation types and clinical findings were compared with variance analysis.
  
  
  RESULTS
  The mean age was 6.9 ± 3.4 years (range, 1.8-11.6 years). The most common symptom was fever (97.3%). Thirty-four of the patients (6.04%) were admitted with periodic fever only. Of these patients, M694V was the most common mutation type (73.5%). The percentage of the patients predominantly presenting with recurrent abdominal pain was 77.78% and the most frequent mutations were M694V and E148Q. The rate of arthritis and arthralgia was significantly higher in patients with M694V and E148Q mutations. Chest pain was reported more often in patients homozygous for M694V (61.4%). Pericardial effusion was documented in the echocardiography of 10.9% of the 229 children with chest pain. Some patients had both FMF and Henoch Schönlein purpura (HSP), and were more likely to harbor either homozygote M694V or E148Q mutations. The frequency of episodes was higher in patients with homozygous M694V mutations (number of attacks = 4.4 ± 1.6/month). Proteinuria was detected in 106 patients of cases (29.2%), at an average of 854 ± 145 mg/L. Most of the patients with proteinuria and elevated serum amyloid-A had homozygous M694V mutation.
  
  
  CONCLUSIONS
  The most common mutation in children in Turkey with FMF is the M694V mutation. Recurrent abdominal pain, arthritis or arthralgia, chest pain, and pericarditis were commonly seen in patients with M694V and E148Q mutations.
authors.affiliation: Department of General Pediatrics, Istanbul University, Istanbul Medical Faculty, 34090, Istanbul, Turkey. draysekilic@gmail.com.
authors.forename: Ayse
authors.initials: A
authors.lastname: Kilic
authors.affiliation: Department of General Pediatrics, Istanbul University, Istanbul Medical Faculty, 34090, Istanbul, Turkey. mavarkal@istanbul.edu.tr.
authors.forename: Muhammet Ali
authors.initials: MA
authors.lastname: Varkal
authors.affiliation: Department of General Pediatrics, Istanbul University, Istanbul Medical Faculty, 34090, Istanbul, Turkey. msaitdurmus@gmail.com.
authors.forename: Mehmet Sait
authors.initials: MS
authors.lastname: Durmus
authors.affiliation: Department of General Pediatrics, Istanbul University, Istanbul Medical Faculty, 34090, Istanbul, Turkey. drismail810@yahoo.com.
authors.forename: Ismail
authors.initials: I
authors.lastname: Yildiz
authors.affiliation: Department of Pediatric Nephrology, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey. znyuruk@gmail.com.
authors.forename: Zeynep Nagihan Yürük
authors.initials: ZN
authors.lastname: Yıldırım
authors.affiliation: Department of Pediatrics, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey. gorkem1988@hotmail.com.
authors.forename: Gorkem
authors.initials: G
authors.lastname: Turunc
authors.affiliation: Department of Pediatrics, Istanbul University, Institute of Child Health, Istanbul, Turkey. faoguz2000@yahoo.com.
authors.forename: Fatma
authors.initials: F
authors.lastname: Oguz
authors.affiliation: Department of General Pediatrics, Istanbul University, Istanbul Medical Faculty, 34090, Istanbul, Turkey. sidalm@istanbul.edu.tr.
authors.forename: Mujgan
authors.initials: M
authors.lastname: Sidal
authors.affiliation: Department of Pediatric Rheumatology, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey. rukiye@istanbul.edu.tr.
authors.forename: Rukiye Eker
authors.initials: RE
authors.lastname: Omeroglu
authors.affiliation: Department of Pediatric Rheumatology, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey. semre@istanbul.edu.tr.
authors.forename: Sevinc
authors.initials: S
authors.lastname: Emre
authors.affiliation: Department of Pediatrics, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey. yasinyilmaz@gmail.com.
authors.forename: Yasin
authors.initials: Y
authors.lastname: Yilmaz
authors.affiliation: Department of Pediatric Rheumatology, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey. fatih2810@gmail.com.
authors.forename: Fatih Mehmet
authors.initials: FM
authors.lastname: Kelesoglu
authors.affiliation: Department of Pediatrics, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey. gencogencay@gmail.com.
authors.forename: Genco Ali
authors.initials: GA
authors.lastname: Gencay
authors.affiliation: Department of Medical Biology, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey. sonaytemurhan@gmail.com.
authors.forename: Sonay
authors.initials: S
authors.lastname: Temurhan
authors.affiliation: Department of Medical Biology, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey. filizkaydin@yahoo.com.
authors.forename: Filiz
authors.initials: F
authors.lastname: Aydin
authors.affiliation: Department of General Pediatrics, Istanbul University, Istanbul Medical Faculty, 34090, Istanbul, Turkey. eminu@istanbul.edu.tr.
authors.forename: Emin
authors.initials: E
authors.lastname: Unuvar
mesh_terms: D015746:Abdominal Pain / Q000209:etiology; D002637:Chest Pain / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D010505:Familial Mediterranean Fever / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005260:Female; D005334:Fever / Q000209:etiology; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010490:Pericardial Effusion / Q000209:etiology; D012189:Retrospective Studies; D012720:Severity of Illness Index