title: Evaluation of the current disease severity scores in paediatric FMF: is it necessary to develop a new one?
abstract: OBJECTIVE
  Modified adult disease severity scoring systems are being used for childhood FMF. We aim to test the clinical consistency of two common severity scoring systems and to evaluate the correlation of scores with the type of FMF mutations in paediatric FMF patients since certain mutations are prone to severe disease.
  
  
  METHODS
  Two hundred and fifty-eight children with FMF were cross-sectionally studied. Assessment of the disease severity was performed by using the modified scoring systems of Mor et al. and Pras et al. Genetic analysis was performed using PCR and restriction endonuclease digestion methods for the presence of 15 FMF gene mutations. FMF mutations were grouped into three based on well-known genotypic-phenotypic associations. Correlation between the mutation groups and the severity scoring systems was assessed. The consistency of the severity scoring systems was evaluated.
  
  
  RESULTS
  The results of two scoring systems were not statistically consistent with each other (κ = 0.171). This inconsistency persisted even in a more homogeneous subgroup of patients with only homozygote mutations of M694V, M680I and M694I (κ = 0.125). There was no correlation between the mutation groups and either of the scoring systems (P = 0.002, r = 0,196 for scoring systems of Mor et al.; P = 0.009, r = 0.162 for Pras et al.).
  
  
  CONCLUSIONS
  The inconsistency of the two scoring systems and lack of correlation between the scoring systems and mutation groups raises concerns about the reliability of these scoring systems in children. There is a need to develop a scoring system in children based on a prospective registry.
authors.affiliation: FMF Arthritis Vasculitis and Orphan Disease Research in Paediatric Rheumatology (FAVOR), Department of Paediatrics, Pediatric Nephrology and Rheumatology Unit, Gulhane Military Medical Faculty, School of Medicine, 06018 Etlik, Ankara, Turkey.
authors.forename: Gokhan
authors.initials: G
authors.lastname: Kalkan
authors.forename: Erkan
authors.initials: E
authors.lastname: Demirkaya
authors.forename: Cengiz Han
authors.initials: CH
authors.lastname: Acikel
authors.forename: Adem
authors.initials: A
authors.lastname: Polat
authors.forename: Harun
authors.initials: H
authors.lastname: Peru
authors.forename: Abdulbaki
authors.initials: A
authors.lastname: Karaoglu
authors.forename: Erkan
authors.initials: E
authors.lastname: Sari
authors.forename: Ismail
authors.initials: I
authors.lastname: Dursun
authors.forename: Faysal
authors.initials: F
authors.lastname: Gok
authors.forename: Seza
authors.initials: S
authors.lastname: Ozen
mesh_terms: D000293:Adolescent; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D010505:Familial Mediterranean Fever / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D015203:Reproducibility of Results; D012720:Severity of Illness Index