Girndt Matthias, Heine Gunnar H, Ulrich Christof, Köhler Hans
Medical Department IV, University of the Saarland, Homburg/Saar, Germany.
Semin Dial. 2007 Jan-Feb;20(1):63-7. doi: 10.1111/j.1525-139X.2007.00243.x.
Complications of the vascular access site for hemodialysis are a major cause of morbidity, suboptimal dialysis, and hospitalization. Vascular access for dialysis that is achieved by central venous catheters is associated with complications such as infection and thrombosis. Arteriovenous fistulas and grafts are also at risk for infectious complications. Further, proliferation of the venous wall with secondary thrombosis is a common pathophysiological process that leads to vascular access dysfunction. Genetic polymorphisms that contribute to vascular access failure are found among factors of the coagulation cascade, and host mediators that induce endothelial dysfunction as well as vessel wall proliferation. The two most common mutations of coagulation factors seem to influence the risk of central venous catheter and fistula thrombosis. Indeed, both the single nucleotide polymorphism of the factor V gene at amino acid position 506 (factor V Leiden mutation) and the prothrombin 20210 polymorphism have been associated with thrombotic complications of the vascular access. Among the endothelium-directed factors, a polymorphism of the methylene tetrahydrofolate reductase gene coding for an enzyme that degrades the endothelium toxic product homocysteine, has been associated with fistula failure. While the angiotensin converting enzyme polymorphism does not seem to be associated with vascular access complications, polymorphisms of the profibrogenic cytokine transforming growth factor-beta1 are associated with the prognosis of native arteriovenous fistulae. The role of pro- and anti-inflammatory cytokine gene polymorphisms as prognostic factors for vascular access is yet to be clearly defined.
血液透析血管通路部位的并发症是发病、透析不充分及住院的主要原因。通过中心静脉导管实现的透析血管通路与感染和血栓形成等并发症相关。动静脉内瘘和移植物也有感染并发症的风险。此外，静脉壁增生伴继发性血栓形成是导致血管通路功能障碍的常见病理生理过程。在凝血级联反应的因素以及诱导内皮功能障碍和血管壁增生的宿主介质中发现了导致血管通路失败的基因多态性。两种最常见的凝血因子突变似乎会影响中心静脉导管和内瘘血栓形成的风险。事实上，凝血因子V基因第506位氨基酸的单核苷酸多态性（凝血因子V莱顿突变）和凝血酶原20210多态性均与血管通路的血栓形成并发症有关。在内皮定向因子中，编码降解内皮毒性产物同型半胱氨酸的酶的亚甲基四氢叶酸还原酶基因的多态性与内瘘失败有关。虽然血管紧张素转换酶多态性似乎与血管通路并发症无关，但促纤维化细胞因子转化生长因子-β1的多态性与自体动静脉内瘘的预后有关。促炎和抗炎细胞因子基因多态性作为血管通路预后因素的作用尚未明确界定。
