Abstract
The aim of this study is to determine the ME diterranean F e V er ( MEFV ) gene mutation carrier rate in patients with glomerulonephritis and to investigate the association between disease features and MEFV variants. Medical records regarding clinical, laboratory, histopathological, and prognostic features of 200 adult patients with biopsy-proven glomerulonephritis were evaluated retrospectively. Exons 2 and 10 of the MEFV gene of each patient were sequenced by next-generation sequencing. Variants were detected and compared with disease features. MEFV mutation carrier rate was 25%, similar among disease subgroups, and higher than the previously reported rates for normal populations. Demographic, clinical, and laboratory features at diagnosis did not differ in patients with and without mutations. Refractory disease rates were 73% and 40% in carriers and noncarriers of E148Q (P = 0.051). Percentage of global sclerotic glomeruli was higher in M694V carriers than noncarriers (medians 24% vs. 0%, P = 0.047). Tubulointerstitial fibrosis was also more severe in M694V carriers. The carrier rate of M694V was 14.3% in patients eventually needing chronic renal replacement therapy (RRT) (n = 21), whereas it was 2.8% in the group without RRT (OR = 5.8 [1.28–26.3], P = 0.040). MEFV mutation carrier rate was higher than expected in our sample of Turkish patients with glomerulonephritis. The E148Q mutation may be associated with refractory disease. The M694V mutation was more frequent in patients who needed chronic R RT.
Highlights
The MEditerranean FeVer (MEFV) gene encodes an intracellular, cytoskeleton-associated protein, pyrin [1]
MEFV mutation carrier rate was higher than expected in our sample of Turkish patients with glomerulonephritis
The E148Q mutation may be associated with refractory disease
Summary
The MEditerranean FeVer (MEFV) gene encodes an intracellular, cytoskeleton-associated protein, pyrin ( known as marenostrin) [1]. Homozygous or compound heterozygous mutations of the MEFV gene result in defects in pyrin function and are responsible for the disease familial Mediterranean fever (FMF, OMIM 249100) [3] Patients with this autoinflammatory disease are more prone to other rheumatic diseases like seronegative spondylarthropathies [4], vasculitides [5,6], Behçet’s disease [7,8], glomerulonephritides [6], inflammatory bowel diseases [9], and multiple sclerosis [10], probably. Polymorphisms in the genes located in this chromosomal region are known to have predisposing/protective effects on immune diseases like multiple sclerosis and rheumatoid arthritis [32]
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