ESPN 51th Annual Meeting

ESPN 2018


 
Is there a modifier effect of familial Mediterranean fever gene (MEFV) mutation on renal involvement in children with systemic lupus erythematosus?
NURAN CETIN ASLI KAVAZ TUFAN 1

1- DEPARTMENT OF PEDIATRIC NEPHROLOGY, FACULTY OF MEDICINE, ESKISEHIR OSMANGAZI UNIVERSITY, TURKEY
 
Introduction:

Recently, a negative association and a protective effect of MEFV mutations on renal morbidity in systemic lupus erythematosus (SLE) have been reported. In this study, we aimed to investigate the frequency of the MEFV gene variations and their effects on renal involvement in children with biopsy-proven SLE nephritis.

Material and methods:

 All patients were diagnosed for SLE according to Systemic Lupus International Collaborating Clinics classification criteria. At the time of diagnosis, demographic characteristics, the clinical and laboratory data of the patients were recorded. MEFV gene variations were determined by PCR-restriction fragment length polymorphism analysis.

Results:

The 20 [15 (75%) girls, 5 (25%) boys] children with SLE were included in this study. The MEFV mutation was determined in 6 (30%) patients (3 heterozygous mutations, 2 homozygote  mutations, 1 compound heterozygous mutation). The patients with MEFV mutation had higher neutrophil count and the frequency of fever than in the patients without mutation (p=0.019). Ten patients (50%) had biopsy-proven lupus nephritis [5(83.3%) patients in MEFV mutation (+) group, 5 (35.7%) patients in MEFV mutation (-) group] . The frequency of biopsy-proven lupus nephritis was higher in the patients with MEFV mutation (p=0.044). There were no significant differences in the hematological and serologic parameters, the frequency of the other organ involvement between groups with and without MEFV mutation in patients with lupus nephritis (p> 0.05).

Conclusions:

 We could not show the protective effect of MEFV mutation on renal involvement. The presence of the MEFV mutation may contribute to inflammatory manifestations such fever as and and higher neutrophil count in SLE.