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