Fekih-Mrissa Najiba, Klai Sarra, Bafoun Anis, Nciri Brahim, Hmida Jalel, Gritli Nasredine
Laboratory of Molecular Biology, Department of Hematology, Military Hospital, Tunis, Tunisia.
Ther Apher Dial. 2011 Feb;15(1):40-3. doi: 10.1111/j.1744-9987.2010.00848.x.
Vascular access thrombosis represents a serious and common problem in hemodialysis patients. Therefore, identification of relevant thrombotic risk factors could lead to an improved antithrombotic therapy. This case control study was performed to evaluate the relationship between some thrombophilias and vascular access thrombosis in hemodialysis patients. Seventy-eight patients undergoing dialysis (between May 2007 and September 2009) were selected as subjects. This sample was divided into two groups; a case group of 28 patients who had sustained one or more thrombotic events that resulted in vascular access failure and a control group of 50 patients, who had never had a thrombotic occlusion of a functioning permanent dialysis access. Antithrombin, protein C and protein S levels were measured. Also, both groups were tested for the factor V Leiden mutation, the prothrombin G20210A mutation, the methylene tetrahydrofolate reductase C677T and A1298C mutations. Among genetic mutations of factor V Leiden, prothrombin G20210A and methylene tetrahydrofolate reductase genes, the C677T methylene tetrahydrofolate reductase mutation was the only significant genetic cause of vascular access thrombosis (P=0.005). Our data demonstrated a significantly increased risk of vascular access thrombosis in carriers of the C677T methylene tetrahydrofolate reductase mutation.
血管通路血栓形成是血液透析患者中一个严重且常见的问题。因此，识别相关的血栓形成危险因素可能会改善抗血栓治疗。本病例对照研究旨在评估血液透析患者中某些易栓症与血管通路血栓形成之间的关系。选取了78例接受透析的患者（2007年5月至2009年9月期间）作为研究对象。该样本分为两组；病例组为28例发生过一次或多次血栓形成事件导致血管通路失败的患者，对照组为50例从未发生过功能性永久性透析通路血栓闭塞的患者。检测了抗凝血酶、蛋白C和蛋白S水平。此外，两组均检测了凝血因子V莱顿突变、凝血酶原G20210A突变、亚甲基四氢叶酸还原酶C677T和A1298C突变。在凝血因子V莱顿、凝血酶原G20210A和亚甲基四氢叶酸还原酶基因的基因突变中，C677T亚甲基四氢叶酸还原酶突变是血管通路血栓形成的唯一重要遗传原因（P = 0.005）。我们的数据表明，C677T亚甲基四氢叶酸还原酶突变携带者发生血管通路血栓形成的风险显著增加。
