Disease severity and genotype-phenotype correlation in adult patients with familial Mediterranean fever

To assess the relationships of disease severity with genotype and phenotype in adult familial Mediterranean fever patients. Two-hundred seventy-five patients included in the study were divided into four groups according to their mutations: Group 1, M694V homozygous; Group 2, M694V-other; Group 3, ot...

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Veröffentlicht in:Modern rheumatology 2023-12, Vol.34 (1), p.214-219
Hauptverfasser: Tuncer Kuru, Fatma, Gokcen, Neslihan, Yazici, Ayten, Cefle, Ayse
Format: Artikel
Sprache:eng
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Zusammenfassung:To assess the relationships of disease severity with genotype and phenotype in adult familial Mediterranean fever patients. Two-hundred seventy-five patients included in the study were divided into four groups according to their mutations: Group 1, M694V homozygous; Group 2, M694V-other; Group 3, other-other; and Group 4, no meaningful gene variants. Disease severity was evaluated using the Pras disease severity score. The association between Pras scores and other possible predictors was assessed by the multiple linear regression analysis. In this study, 12.4% of all patients were in Group 1, 55.3% were in Group 2, 26.5% were in Group 3, and 5.8% were in Group 4. Pras scores were higher in Group 1 than in Groups 2, 3, and 4 (post hoc pairwise comparisons; P = .001, P 
ISSN:1439-7595
1439-7609
DOI:10.1093/mr/road007