Renal Involvement in Different Genotypes of Familial Mediterranean Fever a report from Azerbaijan Province

Abstract

Background and Objectives: Familial Mediterranean fever (FMF) is a hereditary disorder characterized by recurrent self-limited attacks of fever and polyserositis. The disease is associated with mutations in the (MEFV) gene. The M694V mutation carries a significant risk for amyloidosis. The purpose of this study was to evaluated renal involvement in different genotypes of familial Mediterranean fever among patients diagnosed in East Azerbaijan state. Material and Methods: Five hundred genetically identified FMF patients were included in our study and their demographic Characteristics, clinical manifestation and laboratory findings were studied respectively. According to their genotype and heterozygocity or homozygocity patients were divided into 4 groups (M694V/M694V, M694V/other, other/other, E148Q/other). Renal involvement defined by the presence of glomerular hematuria and persistent proteinuria unrelated to other conations. Results: Among our cohort we discovered nine patients (1.8%; M/F: 5/4) with renal involvement. Eight of them Kidney biopsy was performed and it was compatible with amyloidosis. One patient had acute glomerulonephritis with meningeal proliferation and these patients had E148Q mutation. The most frequent mutation among other patients was M694V (42%). Conclusion: The results of this study showed that in other ethnicities ‘like previously reported results M694V mutation is the most important genetic factor for renal involvement in FMF.

Keywords: Familial Mediterranean fever, Amyloidosis, Proteinuria, Renal involvement