Vitamin D Receptor (VDR) Gene Polymorphisms and High-Turnover Renal Osteodystrophy or Secondary Hyperparathyroidism in End-Stage Renal Disease: A Systematic Review.

Autor: Sinha T; Internal Medicine, Tribhuvan University, Kathmandu, NPL., Mushtaq MM; Medicine and Surgery, King Edward Medical University, Lahore, PAK., Ali H; Medicine and Surgery, King Edward Medical University, Lahore, PAK., Liaqat M; Internal Medicine, King Edward Medical University, Lahore, PAK., Mushtaq M; Medicine and Surgery, King Edward Medical University, Lahore, PAK., Sarwar MA; Medicine, Shaikh Khalifa Bin Zayed Al-Nahyan Medical and Dental College, Lahore, PAK., Sarwer MA; Medicine, King Edward Medical University, Lahore, PAK., Bakht D; Medicine and Surgery, King Edward Medical University, Lahore, PAK., Fatima R; Medicine and Surgery, Fatima Jinnah Medical University, Lahore, PAK., Bokhari SFH; Surgery, King Edward Medical University, Lahore, PAK.
Jazyk: angličtina
Zdroj: Cureus [Cureus] 2024 Jul 19; Vol. 16 (7), pp. e64925. Date of Electronic Publication: 2024 Jul 19 (Print Publication: 2024).
DOI: 10.7759/cureus.64925
Abstrakt: 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.
Competing Interests: Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.
(Copyright © 2024, Sinha et al.)
Databáze: MEDLINE