Büyükçelik Mithat, Karakök Metin, Başpinar Osman, Balat Ayşe
Department of Pediatric Nephrology, Gaziantep University Faculty of Medicine, Sahinbey , Gaziantep 27310, Turkey.
Pediatr Nephrol. 2008 Mar;23(3):491-4. doi: 10.1007/s00467-007-0657-1. Epub 2007 Nov 21.
Acquired abnormalities of coagulation and fibrinolysis in nephrotic syndrome have been implicated in the pathogenesis of deep-vein and arterial thrombosis. A mutation in the factor V and methylenetetrahydrofolate reductase (MTHFR) gene, the commonest inherited risk factor for venous thrombosis, may contribute to the risk of both arterial and deep-vein thrombosis in patients with nephrotic syndrome. Here, we report on an arterial thrombosis in a young girl with idiopathic membranous glomerulonephritis associated with heterozygous factor V Leiden and homozygous MTHFR C677T mutation. We postulate that screening for factors such as factor V Leiden and MTHFR C677T mutation may be beneficial to patients associated with thromboembolism and idiopathic nephrotic syndrome.
肾病综合征中获得性凝血和纤维蛋白溶解异常与深静脉和动脉血栓形成的发病机制有关。因子V和亚甲基四氢叶酸还原酶(MTHFR)基因的突变是静脉血栓形成最常见的遗传危险因素,可能增加肾病综合征患者发生动脉和深静脉血栓形成的风险。在此,我们报告一名患有特发性膜性肾小球肾炎的年轻女孩发生动脉血栓形成,该女孩同时伴有杂合子因子V莱顿突变和纯合子MTHFR C677T突变。我们推测,对因子V莱顿和MTHFR C677T突变等因素进行筛查可能对伴有血栓栓塞和特发性肾病综合征的患者有益。