- Pediatric Practice and Research
- Cilt: 11 Sayı: 3
- The Effect of E148Q Variant on Disease Severity in Familial Mediterranean Fever Patients with Compou...
The Effect of E148Q Variant on Disease Severity in Familial Mediterranean Fever Patients with Compound Heterozygous Mutation
Authors : Müge Sezer, Elif Çelikel, Zahide Ekici Tekin, Vildan Güngörer, Nilüfer Tekgöz, Cüneyt Karagöl, Serkan Coşkun, Melike Mehveş Kaplan, Nimet Öner, Merve Cansu Polat, Banu Acar
Pages : 111-115
View : 67 | Download : 127
Publication Date : 2023-10-15
Article Type : Research
Abstract :Aim: In this study, we aimed to evaluate the demographic and clinical findings of familial Mediterranean fever (FMF) patients carrying a compound heterozygous mutation and to investigate the effect of the E148Q variant on disease severity. Methods: Patients between the ages of 0-18 years diagnosed with FMF and carrying a compound heterozygous mutation were included in the study. Disease severity was assessed using the international severity scoring for FMF (ISSF). Patients were divided into two groups according to mutation type: those with exon 10/E148Q compound heterozygous mutation (Group 1) and exon 10/exon 10 compound heterozygous mutation (Group 2). Results: A total of 317 FMF patients with compound heterozygous mutations had a male/female ratio of: 1.07, median age at diagnosis was 6.7 (IQR:6.3) years. The most common symptom was abdominal pain (85.8%). The median age at diagnosis was 6 years in Group 2 (n=219) and 8.2 years in Group 1 (n=98) (p=0.005). Fever (75.8%) was more common in patients with two exon 10 mutations (75.8%) (p=0.001). The presence of more than two different attack types, more than two findings in an attack and an attacks lasting longer than 72 hours were more frequent in patients in Group 2 (p=0.021, p<0.001, p=0.043, respectively). The ISSF score of Group 2 was higher than the other group (p<0.001). Conclusion: Patients with two exon 10 mutations have more severe disease than patients with other compound heterozygous mutations including the E148Q mutation. ISSF score is lower in patients with E148Q mutation in one allele.Keywords : Ailevi Akdeniz ateşi, E148Q varyant, ISSF skoru