慢性肾病(CKD)和终末期肾病(ESRD)通常并发高周转性肾性骨营养不良(HTRO)和继发性甲状旁腺功能亢进(SHPT)。以矿物质代谢紊乱和骨骼异常为特征。维生素D受体(VDR)基因内的遗传变异,称为VDR基因多态性,与调节对HTRO和SHPT的敏感性有关。本系统综述旨在评估现有文献中关于VDR基因多态性与ESRD和血液透析患者这些并发症发展之间的关联。对多个数据库进行了全面的文献检索,并纳入了ESRD或血液透析患者VDR基因多态性和HTRO或SHPT的研究。纳入的研究检查了各种VDR基因多态性,比如Bsmi,ApaI,TaqI,还有Foki,以及它们与临床结果如甲状旁腺激素(PTH)水平的关联,骨矿物质密度,以及SHPT或HTRO的发展。研究结果表明,某些VDR基因多态性,特别是ApaI“aa”基因型,BsmI\"bb\"基因型,TaqI\"tt\"基因型,和FokI变体,可能通过影响PTH水平来促进SHPT和HTRO的发病机理,骨转换标记,和维生素D敏感性。然而,这些研究的样本量相对较小,在不同的人群中进行,限制了泛化性。更大规模的研究,功能调查,和探索基因-环境相互作用是必要的,以阐明潜在的机制,并促进个性化治疗CKD和ESRD患者的矿物质和骨障碍。
Chronic kidney disease (CKD) and end-stage renal disease (ESRD) are often complicated by high-turnover renal osteodystrophy (HTRO) and secondary hyperparathyroidism (SHPT), characterized by disturbances in mineral metabolism and skeletal abnormalities. Genetic variations within the vitamin D receptor (VDR) gene, known as VDR gene polymorphisms, have been implicated in modulating the susceptibility to HTRO and SHPT. This systematic
review aims to evaluate the existing literature on the association between VDR gene polymorphisms and the development of these complications in ESRD and hemodialysis patients. A comprehensive literature search across multiple databases was conducted, and studies investigating VDR gene polymorphisms and HTRO or SHPT in ESRD or hemodialysis patients were included. The included studies examined various VDR gene polymorphisms, such as BsmI, ApaI, TaqI, and FokI, and their associations with clinical outcomes like parathyroid hormone (
PTH) levels, bone mineral density, and the development of SHPT or HTRO. The findings suggest that certain VDR gene polymorphisms, notably the ApaI \"aa\" genotype, BsmI \"bb\" genotype, TaqI \"tt\" genotype, and FokI variant, may contribute to the pathogenesis of SHPT and HTRO by affecting
PTH levels, bone turnover markers, and vitamin D sensitivity. However, the studies had relatively small sample sizes and were conducted in different populations, limiting generalizability. Further larger-scale studies, functional investigations, and exploration of gene-environment interactions are warranted to elucidate the underlying mechanisms and facilitate personalized treatment approaches for CKD and ESRD patients with mineral and bone disorders.