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

Area of Science:

• Nephrology
• Genetics
• Internal Medicine

Background:

• Glomerulonephritis is a significant cause of kidney disease.
• The Mediterranean Fever (MEFV) gene is associated with autoinflammatory disorders.
• The role of MEFV gene variants in glomerulonephritis is not well understood.

Purpose of the Study:

• To determine the carrier rate of MEFV gene mutations in Turkish patients with glomerulonephritis.
• To investigate the association between MEFV variants and clinical, histopathological, and prognostic features of glomerulonephritis.

Main Methods:

• Retrospective evaluation of 200 adult patients with biopsy-proven glomerulonephritis.
• Next-generation sequencing of exons 2 and 10 of the MEFV gene.
• Comparison of MEFV variant carrier status with disease features.

Main Results:

• MEFV mutation carrier rate was 25%, higher than in the general population.
• E148Q mutation carriers showed a higher rate of refractory disease (73% vs. 40%).
• M694V mutation carriers had increased glomerular sclerosis, tubulointerstitial fibrosis, and a higher likelihood of needing renal replacement therapy (14.3% vs. 2.8%).

Conclusions:

• The carrier rate of MEFV mutations is higher than expected in Turkish patients with glomerulonephritis.
• The E148Q variant may be associated with refractory glomerulonephritis.
• The M694V variant is more frequent in patients requiring chronic renal replacement therapy, suggesting a role in disease progression.