Molecular genetic analysis of various types of complications in patients with long-term dialysis therapy

本研究的目的是探讨基因多态性与血液透析患者各种并发症的关系，并为这些疾病寻找新的分子靶点。目前，新泻县约有4500名患者正在接受血液透析治疗，其中透析20年或以上的患者所占比例超过8.5%，为全国最高。收集了新泻县长期血液透析患者的详细临床资料和基因组DNA，分析了炎性细胞因子基因、脂代谢基因、钙代谢基因和血管活性多肽基因等多种基因多态性。我们正在对他们进行随访，以确定他们的存活率，并记录任何与透析相关的并发症，特别是透析相关的淀粉样变性、骨/关节并发症、心血管事件以及尿毒症瘙痒。我们已经报道，在数百名血液透析患者中，各种基因多态与透析相关的淀粉样变性和心血管并发症的发生有关。)。此外，我们调查了大量维持性血液透析患者(N=2400)中严重尿毒症瘙痒的危险因素，发现严重尿毒症瘙痒与不良预后独立相关，即使在调整了其他重要的临床危险因素后也是如此(Narita I，等人)。国际肾脏公司，2006)。我们还报道了一项长期血液透析治疗患者的前瞻性研究(Ajiro J，et al.Clin J am Soc Nephrol，2007)

The aim of this study was to investigate the association of genetic polymorphisms and various types of complications in dialysis patients and to explore new molecular targets for these disorders.About 4,500 patients are currently receiving hemodialysis therapy in Niigata prefecture, and, the proportion of the patients, who have been hemodialysed for 20 years or more, is more than 8.5%, which is the highest in this country. Moreover, 15.5% of cases under long-term hemodialysis for more than 30 years in this country are in our prefecture.We have collected detailed clinical data and genomic DNA of long-term hemodialysis patients in Niigata prefecture and analyzed multiple genetic polymorphisms, including genes for inflammatory cytokines, lipid metabolism, calcium metabolism, and vasoactive peptides. We are following them up in order to determine their survival, and to record any dialysis associated complications particularly dialysis-associated amyloidosis, complications of bone / joint, and cardiovascular events, as well as uremic pruritus.We have reported that various genetic polymorphisms are associated with the onset of dialysis-associated amyloidosis and cardiovascular complications in hundreds patients with hemodialysis. ). Moreover, we have investigated the risk factors for severe uremic pruritus in a large-population (N = 2,400) of patients under maintenance hemodialysis and found that severe uremic pruritus was independently associated with poor outcome even after adjusting for other significant clinical risk factors in these patients (Narita I, et al. Kidney Int, 2006). We also have reported a prospective study of patients with long-term hemodialysis treatment (Ajiro J, et al. Clin J Am Soc Nephrol, 2007)