Clinical significance of MEFV gene variation R202Q
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Tarih
2022
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Springer London Ltd
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Background The aim of this study was to evaluate the phenotypic features and the clinical significance of the R202Q mutation of the MEFV gene. Methods We retrospectively reviewed the medical records of Familial Mediterranean Fever patients with M694V/- and M694V/R202Q mutations. We compared the patients regarding disease severity, symptoms, age at the onset of symptoms, gender, consanguinity, and family history. Results Twenty-one patients (9 males, 12 females) had compound heterozygote mutation (M694V/R202Q), and 37 patients (23 males, 14 females) had M694V/- mutation. The mean age of the patients at the time of diagnosis was 7.3 +/- 4.3 and 9.2 +/- 3.7 years. The rate of arthritis was significantly higher in patients with M694V/R202Q heterozygote mutation than those with M694V/- heterozygote mutation (76.2% vs 32.4%; p= < 0.001). The mean severity score was higher in M694V/R202Q heterozygote group although it did not reach statistical significance (8.43 +/- 1.69 vs 7.49 +/- 1.50; p= 0.082). However, the rate of having a high severity score was significantly higher in the M694V/R202Q mutation group than in the other group (47.6% vs 21.6%, respectively; p= 0.039). The rate of arthritis was significantly higher in patients with M694V/R202Q heterozygote mutation than those with M694V/- heterozygote mutation (76.2% vs 32.4%; p= < 0.001). Conclusion Our finding supports the possibility that R202Q may be pathogenic rather than a variation. We found that the R202Q mutation is associated with the inflammatory phenotype of FMF; hence, the typical clinical findings of FMF especially arthritis can be observed in patients with compound mutation including R202Q.
Açıklama
Anahtar Kelimeler
Familial Mediterranean Fever; R202Q; Arthritis; Pediatric
Kaynak
Clinical Rheumatology
WoS Q Değeri
Q3
Scopus Q Değeri
Q1
Cilt
41
Sayı
1
