Frequency of familial Mediterranean fever (MEFV) gene mutations in patients with biopsy-proven primary glomerulonephritis

Abstract

Primary glomerulopathies are those disorders that affect glomerular structure, function, or both in the absence of a multisystem disorder. We aimed to evaluate the frequency of MEFV gene mutation to show possible coexistence of FMF in patients diagnosed with biopsy-proven primary glomerulonephritis (GN). A total of 64 patients with biopsy-proven primary GN were included in the study. MEFV gene mutations examined retrospectively. The mean age of patients was 39.6 ± 13.4 (range 18-69), 35 of patients were female and 29 of patients were male. Of the 64 patients, 17 were mesangial proliferative glomerulonephritis (MsPGN), 15 were IgA nephropathy (IgAN), 12 were membranous glomerulonephritis (MGN), 11 were focal segmental glomerulosclerosis (FSGS), three were membranous proliferative glomerulonephritis (MPGN), three were immune complex glomerulonephritis (ICGN), two were minimal change disease (MCD), and one was IgM nephropathy (IgMN). MEFV gene mutation was detected in 35.9% (23) of these patients. The most frequently detected mutations were E148Q and M694V. Twelve cases (18.75% of GN patients) with MEFV gene mutation were diagnosed as FMF phenotype I. The frequency of MEFV gene mutation was detected at a high rate of 35.9%. Further studies with larger populations are needed to clarify the importance of these mutations on clinical progression of glomerulonephritis.

Clinicopathological Assessment of Kidney Biopsies in Children with Familial Mediterranean Fever: A Single-Center Experience

“…Fever and abdominal pain were significantly higher in N-AN patients than the AN group (p = 0.030). Silent amyloidosis was detected in 4 phenotype II patients in the AN group, which confirmed the hypothesis that some FMF patients may appear asymptomatic [11]. At the time of biopsy, the AN group had higher inflammatory markers, and statistical significance was found in elevated platelet counts.…”

“…Patients with FMF may present with AN before apparent clinical symptoms, and these patients are regarded as phenotype II [11,19,22]. Although studies have reported other rare and clinically insignificant mutations may cause phenotype II [19,22], we found p.M694V mutations in all of our phenotype II patients.…”

“…FMF diagnosis was made based on the criteria defined by Yalçınkaya et al [13]. Patients with amyloidosis who presented without any prior characteristics of FMF attacks were considered as phenotype II [11].…”

“…Persistent proteinuria in FMF patients is generally considered as the first indicator of amyloidosis [2]. However, glomerular lesions other than amyloidosis were also reported in FMF [2,[5][6][7][8][9][10][11][12].…”

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

“…Clinical, laboratory, and pathology findings in our study were also more detailed and quantity-based, allowing further statistical analyses. Very recently, a study from eastern Turkey reported a high MEFV mutation carrier rate (35.9%) in patients with primary glomerulonephritis but did not exclude cases with coexistent FMF, and the rate of coexistent FMF in the study group was quite high (18.7%) (43). Detailed prognostic and histopathological evaluations were also lacking.…”