MEditerranean FeVer (MEFV) gene mutations in glomerulonephritides: a clinicopathological study

Abstract

Background/aim: The aim of this study is to determine the MEditerranean FeVer (MEFV) gene mutation carrier rate in patients withglomerulonephritis and to investigate the association between disease features and MEFV variants.Materials and methods: Medical records regarding clinical, laboratory, histopathological, and prognostic features of 200 adult patientswith biopsy-proven glomerulonephritis were evaluated retrospectively. Exons 2 and 10 of the MEFV gene of each patient were sequencedby next-generation sequencing. Variants were detected and compared with disease features.Results: MEFV mutation carrier rate was 25%, similar among disease subgroups, and higher than the previously reported rates fornormal 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 glomeruliwas higher in M694V carriers than noncarriers (medians 24% vs. 0%, P = 0.047). Tubulointerstitial fibrosis was also more severe inM694V 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).Conclusion: MEFV mutation carrier rate was higher than expected in our sample of Turkish patients with glomerulonephritis. TheE148Q mutation may be associated with refractory disease. The M694V mutation was more frequent in patients who needed chronicRRT.