Abstract

Objective: The aim of this study was to review the demographic, clinical, and laboratory data of pediatric familial Mediterranean fever (FMF) patients, and to investigate whether there is a correlation between phenotype and genotype in this population.

Material and Methods: The medical records of 192 children (106 male and 86 female) with FMF who were followed at Department of Rheumatology-İstanbul Göztepe Training and Research Hospital, were retrospectively evaluated. The patients were divided into four groups according to the most common mutations of M680I, M694V, and V726A as follows: group 1: M694V heterozygote; group 2: M694V/M694V homozygote; group 3: compound heterozygote (M694V/M680I or M694V/V726A); group 4: group with no mutation. These groups were compared to each other according to age, gender, age at disease onset, age at diagnosis, fever, abdominal pain, arthralgia-arthritis, chest pain, erysipelas-like erythema, disease severity score, amyloidosis and family history.

Results: The disease severity score was higher in the M694V homozygote and compound heterozygote groups than in the group with no mutation, but there was no difference between the M694V homozygote and M694V heterozygote groups.conclusion: Although the patient population was small and few mutations were detected in the present study, we conclude that the patients that were homozygous for M694V mutations were prone to severe disease

Keywords: Children, Familial Mediterranean fever, Genotype phenotype

References

  1. Pras M. Familial Mediterranean fever: From the clinical syndrome to the cloning of pyrin gene. Scand J Rheumatol 1998;27:92-7.
  2. La Regina M, Nucera G, Diaco M, Procopio A, Gasbarrini G, Notarcnicola C, et al. Familial Mediterranean fever is no longer a rare disease in Italy. Eur J Hum Genet 2004;12:85-6.
  3. Sohar E, Gafni J, Pras M, Heller H. Familial Mediterranean fever. A survey of 470 cases and review of the literature. Am J Med1967;43:227-53.
  4. Consortium The International FMF. Ancient missense mutation in a new member of the roret gene family are likely to cause Familial Mediterranean fever. Cell 1997;90:797-807.
  5. Consortium The French FMF. A candidate gene for Familial Mediterranean fever. Nat Genet 1997;17:25-31.
  6. Centola M, Wood G, Frucht DM, Galon J, Aringer M, Farrell C, et al. The gene for Familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. Blood 2000; 95:3223-31.
  7. Chaee JJ, Wood G, Richard K, Jaffe H, Colburn NT, Masters SL, et al. Targeted disruption of pyrine, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis. Mol Cell 2003;11:591-604.
  8. Soriano A, Pras E. Familial Mediterranean fever: Genetic update. IMAJ 2014;16:274-76
  9. Simon A, van der Meer JW. Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes. Am. J Physiol Regul Integr Comp Physiol 2007;292:R86-98.
  10. Mor A, Shinar Y, Zaks N, Langevitz P, Chetrit A, Shtrasburg S, et al. Evaluation of disease severity in familial mediterranean fever. Semin Arthritis Rheum 2005;35:57-64.
  11. Pras E, Livneh A, Balow JE Jr, Pras E, Kastner DL, Pras M, et al. Clinical differences between North African and Iraqi Jews with familial Mediterranean fever. Am J Med Genet 1998;13;75:216-19.

Copyright and license

How to cite

1.
Özlü SG, Ergüven M, Hamzah ÖY. Genotype and Phenotype Correlations in Children with Familial Mediterranean Fever. Turk J Pediatr Dis [Internet]. 2015 Aug. 1 [cited 2025 May 24];9(3):171-5. Available from: https://turkjpediatrdis.org/article/view/317