Ufuk İlgen1, Gökhan Nergizoğlu2. 1. Department of Internal Medicine, Faculty of Medicine, Ankara University, Ankara, Turkey 2. Department of Nephrology, Faculty of Medicine, Ankara University, Ankara, Turkey
Abstract
Background/aim: 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. Materials and methods: 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. Results: 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). Conclusion: 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. This work is licensed under a Creative Commons Attribution 4.0 International License.
Background/aim: 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. Materials and methods: 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. Results: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). Conclusion: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. This work is licensed under a Creative Commons Attribution 4.0 International License.