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  • Poster presentation
  • Open Access

A validation of diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in Turkish children

  • 1Email author,
  • 2,
  • 3,
  • 4,
  • 1,
  • 5,
  • 6,
  • 4,
  • 7,
  • 8,
  • 3,
  • 3,
  • 3,
  • 9 and
  • 10
Pediatric Rheumatology20119 (Suppl 1) :P298

  • Published:


  • Compound Heterozygote
  • Periodic Fever
  • Suspected Diagnosis
  • Autoinflammatory Disease
  • MEFV Gene


In the present study, we validated a set of variables that predict the presence of a mutation in one of the 3 genes known to be associated with the common monogenic autoinflammatory diseases.


A total of 93 consecutive patients with a clinical history of periodic fever were screened for mutations in the MVK, TNFRSF1A, and MEFV genes, and detailed clinical information was collected prospectively. For autosomal-recessive diseases (MKD and FMF), only homozygous or compound heterozygous patients were accepted as genetically positive. The developed diagnostic score was validated in an independent set of 93 patients.


93 patients whose suspected diagnosis was one of the autoinflammatory diseases were enrolled. The mean age at onset was 58,64+40,69 months (54 F, 39 M;). A total of 25 patients with periodic or recurrent fevers did not display any mutation in the 3 genes examined. Of these 68 patients with positive findings on genetic testing, 30 of them had a mutation only in one allele and 38 had mutations in two alleles for MEFV gene. In addition, we identified 4 low-penetrance R92Q mutations for TRAPS and 3 patients, who were compound heterozygotes for the MVK gene. The diagnostic score revealed moderate sensitivity (68%) and specificity (58%) for discriminating patients who were genetically positive from those who were negative.


The suggested set of variables may be used to decide on genetic screening for patients with periodic fever syndromes. However, further studies are needed to improve the sensitivity of the suggested score.

Authors’ Affiliations

Gulhane Military Medical Academy, Pediatric Nephrology and Rheumatology Unit, Ankara, Turkey
Gulhane Military Medical Faculty, Department of Public Health, Division of Epidemiology, Ankara, Turkey
Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Genova, Italy
Hacettepe University Faculty of Medicine, Department of Pediatrics, Pediatric Nephrology and Rheumatology Unit, Ankara, Turkey
Kayseri Education and Research Hospital, Kayseri, Turkey
Ege University Faculty of Medicine Department of Pediatrics, Division of Nephrology, Izmir, Turkey
Erciyes University Medical School, Pediatric Nephrology & Rheumatology Unit, Kayseri, Turkey
Gulhane Military Medical Academy, Department of Medical Genetics, Ankara, Turkey
University of Genoa, Genoa, Italy
Giannina Gaslini Institute, 2nd Division of Paediatrics, Genoa, Italy


© Demirkaya et al; licensee BioMed Central Ltd. 2011

This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.