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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.

This study aimed to objectively evaluate autonomic nervous function in children with primary Raynaud’s phenomenon (PRP). Thirty-two children with PRP and 30 healthy subjects were included in the study. We analyzed heart rate variability (HRV) in the time domain by the following six standard time-domain measures: standard deviation of all normal R-R intervals during 24 h (SDNN), standard deviation of all normal R-R intervals for all 5-min segments (SDNNi), standard deviation of the average normal R-R intervals for all 5-min segments (SDANN), root mean square of the successive normal R-R interval difference, percentage of successive normal R-R intervals longer than 50 ms, and triangular index (integral of the density distribution of NN intervals divided by the maximum of the density distribution). The mean heart rate throughout 24 h was significantly higher in the PRP group than in the control group (p = 0.001). Although heart rate during the activity period was not significantly different from that during the night period, it was higher in the PRP group than in the control group (p = 0.002). In children with PRP, HRV analysis showed significantly lower values of SDNN (p = 0.01), SDNNi (p = 0.005), SDANN (p = 0.02), and HRV triangular index (p = 0.02) compared with the control group. HRV analysis for sympathovagal balance demonstrated a preponderance for the sympathetic component in patients with PRP. We conclude that all time-domain parameters evaluated in HRV analysis are significantly lower in children with PRP than in healthy subjects.