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成人膜性肾小球肾炎相关的脑静脉窦血栓形成与因子 V 莱顿和亚甲基四氢叶酸还原酶 A1298C 突变有关。

Cerebral sinovenous thrombosis associated with factor V Leiden and methylenetetrahydrofolate reductase A1298C mutation in adult membranous glomerulonephritis.

机构信息

Department of Nephrology, Faculty of Medicine, Eskisehir Osmangazi University (ESOGU), Meselik, Eskisehir, Turkey.

出版信息

Ren Fail. 2011;33(5):524-7. doi: 10.3109/0886022X.2011.573892. Epub 2011 Apr 18.

Abstract

Thromboembolic diseases are accepted as the most important complications in adult nephrotic syndrome, particularly membranous nephropathy. As renal vein thrombosis is usually seen in patients with membranous nephropathy, cerebral venous thrombosis is a very rare condition, which has not been reported previously in adult patients with membranous nephropathy. Although acquired dysfunctions of coagulation and fibrinolytic systems are responsible for hypercoagulopathy in patients with nephrotic syndrome, the two most common causes of hereditary venous thrombosis [the mutations of factor V Leiden and methylenetetrahydrofolate reductase (MTHFR)] facilitate thrombosis in arterial and venous system in these patients. We report a 56-year-old man with sinovenous thrombosis, diagnosed as membranous nephropathy and detected to have mutations in factor V Leiden and MTHFR A1298C. Our patient is important because he had genetic risk of thrombotic conditions and was the first adult patient with membranous nephropathy.

摘要

血栓栓塞性疾病被认为是成人肾病综合征中最重要的并发症,尤其是膜性肾病。由于肾静脉血栓通常发生在膜性肾病患者中,脑静脉血栓形成是一种非常罕见的情况,以前在成人膜性肾病患者中并未报道过。尽管获得性凝血和纤维蛋白溶解系统功能障碍导致肾病综合征患者的高凝状态,但遗传性静脉血栓形成的两个最常见原因[因子 V 莱顿突变和亚甲基四氢叶酸还原酶(MTHFR)]使这些患者的动静脉系统易于发生血栓形成。我们报告了一例 56 岁男性患者,患有窦静脉血栓形成,被诊断为膜性肾病,并发现因子 V 莱顿突变和 MTHFR A1298C。我们的患者很重要,因为他有血栓形成的遗传风险,并且是第一个患有膜性肾病的成年患者。

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