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首页> 外文期刊>Clinical rheumatology >Frequency of familial Mediterranean fever (MEFV) gene mutations in patients with biopsy-proven primary glomerulonephritis
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Frequency of familial Mediterranean fever (MEFV) gene mutations in patients with biopsy-proven primary glomerulonephritis

机译：活组织检查验证的初级肾小球肾炎患者家族性地中海发热（MEFV）基因突变的频率

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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.
机译：初级肾小球疗法是影响肾小球结构，功能或无论是否存在多系统障碍的疾病。我们旨在评估MEFV基因突变的频率，以表明诊断活组织检查验证的初级肾小球肾炎（GN）的患者中可能的FMF共存。研究中共有64例活组织检查验证的主要GN患者。 MEFV基因突变回顾性检查。患者的平均年龄为39.6 +/- 13.4（范围18-69），35名患者是女性，29名患者是男性。在64例患者中，17例是患有髓增殖性肾小球肾炎（MSPGN），15例IGA肾病（IgAN），12是膜状肾小球炎（MGN），11是局灶性节段性肾小球粥样硬化（FSG），三个是膜增殖性肾小球肾炎（MPGN），三是免疫复合肾小球肾炎（ICGN），两个是最小的变化疾病（MCD），一种是IgM肾病（IGMN）。在35.9％（23）款患者中检测到MEFV基因突变。最常检测到的突变是E148Q和M694V。具有MEFV基因突变的12例（18.75％的GN患者）作为FMF表型I.以35.9％的高速率检测MEFV基因突变的频率。需要进一步研究较大的群体，以阐明这些突变对肾小球肾炎的临床进展的重要性。

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