Department of Nephrology, Fundeni Clinical Institute, 022328 Bucharest, Romania.
Department of Uronephrology, "Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Medicina (Kaunas). 2020 May 19;56(5):242. doi: 10.3390/medicina56050242.
Venous thromboembolic events (VTEs) are among the most important complications of nephrotic syndrome (NS). We conducted a study that aimed to determine the prevalence of inherited risk factors for VTE in NS and to identify which factors are independent predictors of VTE. Thirty-six consecutive patients with primary NS that underwent percutaneous kidney biopsy between January 2017 and December 2017 were enrolled in this retrospective, observational study. VTEs were the primary outcome. Baseline demographic and biochemical data were collected from medical records, and genetic testing was done for polymorphisms of Factor V, PAI, MTHFR, and prothrombin genes. The incidence of VTE was 28%, and the median time to event was 3 months (IQR: 2-9). The prevalence of inherited risk factors was 14% for Factor V Leiden mutation, 5.6% for prothrombin G20210A, 44.5% for PAI, and 27.8% for each of the two polymorphisms of the MTHFR gene. On multivariate analysis, the presence of at least two mutations was independently associated with the risk of VTE (HR, 8.92; 95% confidence interval, CI: 1.001 to 79.58, = 0,05). These findings suggest that genetic testing for inherited thrombophilia in NS could play an important role in detecting high-risk patients that warrant prophylactic anticoagulation
静脉血栓栓塞事件（VTEs）是肾病综合征（NS）最主要的并发症之一。我们进行了一项研究，旨在确定 NS 患者 VTE 的遗传性危险因素的流行情况，并确定哪些因素是 VTE 的独立预测因子。
本回顾性观察研究纳入了 2017 年 1 月至 2017 年 12 月期间接受经皮肾活检的 36 例原发性 NS 连续患者。VTE 是主要结局。从病历中收集基线人口统计学和生化数据，并对因子 V、PAI、MTHFR 和凝血酶原基因的多态性进行基因检测。
VTE 的发生率为 28%，中位事件时间为 3 个月（IQR：2-9）。因子 V Leiden 突变的遗传性危险因素患病率为 14%，凝血酶原 G20210A 为 5.6%，PAI 为 44.5%，MTHFR 基因的两种多态性各为 27.8%。多变量分析显示，至少存在两种突变与 VTE 风险独立相关（HR，8.92；95%CI：1.001 至 79.58， = 0.05）。
这些发现表明，NS 中遗传性血栓形成倾向的基因检测可能在检测需要预防性抗凝的高危患者方面发挥重要作用。
