Department of Clinical and Toxicological Analysis, Federal University of Minas Gerais, Brazil.
Clin Chim Acta. 2011 Feb 20;412(5-6):425-9. doi: 10.1016/j.cca.2010.11.002. Epub 2010 Nov 8.
Vascular access thrombosis increases morbidity in hemodialysis (HD) patients. The aim of this study was to investigate the association between HD vascular access thrombosis and mutations in the prothrombin and factor V Leiden (FV) genes and ABO blood system.
This cross-sectional study included 195 patients with end stage renal disease (ESRD) on HD for more than six months. HD patients were allocated into two groups according to the occurrence (cases, N=46) or not (controls, N=149) of previous vascular access thrombosis. FV and prothrombin gene mutations were investigated by polymerase chain reaction and ABO blood group phenotyping was performed by the indirect technique. Univariate analysis detected the variables with a trend to be associated with thrombosis and was followed by multivariate analysis to define independent predictors of vascular access thrombosis.
FV Leiden mutation and ABO blood group were not associated with vascular access thrombosis, whereas G20210A mutation in the prothrombin gene was significantly higher in patients with vascular access thrombosis and independently associated with this complication (OR=12.0; CI 95%=1.8-83.5; p=0.012).
G20210A mutation emerges as an important genetic factor predisposing to vascular access thrombosis. The definition of risk factors for thrombosis will certainly enable a rational approach for HD patients.
血管通路血栓形成增加了血液透析（HD）患者的发病率。本研究旨在探讨 HD 血管通路血栓形成与凝血酶原和因子 V 莱顿（FV）基因突变以及 ABO 血型系统之间的关系。
本横断面研究纳入了 195 名接受 HD 治疗超过 6 个月的终末期肾病（ESRD）患者。根据先前是否发生血管通路血栓形成（病例组，N=46）将 HD 患者分为两组。通过聚合酶链反应（PCR）检测 FV 和凝血酶原基因突变，采用间接技术进行 ABO 血型表型分析。单变量分析检测到与血栓形成有趋势相关的变量，随后进行多变量分析以确定血管通路血栓形成的独立预测因素。
FV Leiden 突变和 ABO 血型与血管通路血栓形成无关，而凝血酶原基因中的 G20210A 突变在发生血管通路血栓形成的患者中明显更高，且与该并发症独立相关（OR=12.0；95%CI=1.8-83.5；p=0.012）。
G20210A 突变是导致血管通路血栓形成的重要遗传因素。血栓形成危险因素的确定将为 HD 患者提供合理的治疗方法。
