الفهرس | Only 14 pages are availabe for public view |
Abstract Abstract Chronic kidney disease is one of the most problematic diseases in our country, a leading cause of morbidity and mortality worldwide. Chronic kidney disease-mineral and bone disease is a common complication of CKD and an important cause of morbidity and decreased life quality. It comprises a group of inter-related abnormalities of either one or a combination of the following: i) serum bone biomarkers: calcium, phosphorus, parathyroid hormone or vitamin D metabolism, ii) bone: bone turnover, mineralization, volume, linear growth or strength and iii) the vasculature: arterial stiffness and calcification. Serum levels of 25-hydroxy vitamin D and iPTH provide an accurate picture of bone turnover and mineralization states therefore they could be used with other serum bone biomarkers as non-invasive sensitive bone markers to help management of MBD in CKD patients. The biological activity of 1,25-dihydroxy vitamin D is mediated by the activation of the high affinity nuclear VDR bonds. The VDR gene is located on chromosome 12q12.14 and is composed of 8 protein-coding exons (exons 2–9) and 6 untranslated exons (1a-1f) that are alternatively spliced. Many isolated single -nucleotide polymorphisms in the VDR gene were found to be associated with CKD and CKD-MBD. VDR BsmI and TaqI gene polymorphism are regarded as strong markers of the disturbed vitamin D signaling pathway. Exclusion criteria included the presence of patients suffering from diabetes mellitus, those who underwent parathyroidectomy or have previous renal transplantation. All individuals included in this study were subjected to full history taking focusing on previous symptoms of CKD and its complications, thorough clinical examination with special emphasis bone examination. Routine laboratory investigations: urea, creatinine, uric acid, fasting and 2 hours postprandial blood glucose (to exclude DM). Serum bone biomarkers (total and ionized calcium, inorganic phosphate, alkaline phosphatase, vitamin D and intact parathyroid hormone) and estimation of glomerular filtration rate using MDRD formula were done. VDR BsmI (rs1544410) and TaqI (rs731236) genetic polymorphisms were detected by PCR-RFLP technique. Regarding the frequency of VDR BsmI (rs1544410) gene polymorphism, data of the present study revealed that, a non-significant difference was observed between both group 1 (CKD-MBD patients) and group 2(healthy control). A non-significant difference was also observed between both subgroup 1a (CKD-MBD stages 3 and 4) and subgroup 1b (CKD-MBD stages 5) regarding the distribution of VDR BsmI genotypic polymorphisms. |