Existe uma relacao entre a artrite gotosa e as mutacoes geneticas da febre familiar do Mediterraneo? Existe uma relação entre a artrite gotosa e as mutações genéticas da febre familiar do Mediterrâneo?

SARI İ., Simsek I., Tunca Y., Kisacik B., Erdem H., Pay S., ...More

Revista Brasileira de Reumatologia, vol.55, no.4, pp.325-329, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 55 Issue: 4
  • Publication Date: 2015
  • Doi Number: 10.1016/j.rbr.2014.10.008
  • Journal Name: Revista Brasileira de Reumatologia
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.325-329
  • Keywords: Gouty arthritis, MEFV protein, Familial Mediterranean fever, MEFV MUTATIONS, DISEASE, FREQUENCY
  • Dokuz Eylül University Affiliated: Yes


© 2014 Elsevier Editora Ltda. All rights reserved.Objective: Gouty arthritis and familial Mediterranean fever (FMF) share some clinical and pathological features such as being classified as auto inflammatory disease, association with inflammasome, short-lived intermittent arthritis, and good response to colchicine and anti-interleukin-1 treatments. As Mediterranean fever (MEFV) gene is the causative factor of FMF, we aimed to investigate the prevalence of MEFV gene mutations and their effect on disease manifestations in Turkish gouty arthritis patients. Methods: Ninety-seven patients diagnosed with primary gouty arthritis (93 M and 4 F, 54 [37-84] years) and 100 healthy controls (94M and 6 F, 57 [37-86] years) included in the study. All subjects were genotyped for the MEFV variations. Number of gout attacks, diuretic use, and history of nephrolithiasis and presence of tophus were also recorded. Results:The carriage rate of MEFV mutations for patients and controls were 22.7% (n = 22) and 24% (n = 24) respectively. The comparison of the patient and control groups yielded no significant difference in terms of the MEFV mutations carriage rate (p = 0.87). The allelic frequencies of the MEFV mutations in patients were 11.9% (n = 23) and 14% (n = 28) in controls (p = 0.55). The presence of MEFV variants did not show any association with clinical features of gouty arthritis. The subgroup analysis of patients revealed that gouty arthritis patients with mutations had similar frequencies of tophus, history of nephrolithiasis and podogra compared to the ones without mutations (p>0.05). Conclusions: This study does not provide support for a major role of MEFV mutations in Turkish gouty arthritis patients.