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العنوان
STUDY OF THE POLYMORPHISM BsmI AND TaqI IN VITAMIN D RECEPTOR GENE IN EGYPTIAN PATIENTS WITH chrONIC KIDNEY DISEASE/
المؤلف
Mohamed,Farida Mohamed Khanany
هيئة الاعداد
باحث / فريدة محمد خناني محمد
مشرف / مني مصطفي عثمان
مشرف / إيريس جرجس نسيم
مشرف / عبير إبراهيم عبد المجيد
مشرف / هدي أحمد عبدالستار
تاريخ النشر
2018
عدد الصفحات
194.p:
اللغة
الإنجليزية
الدرجة
الدكتوراه
التخصص
الطب (متفرقات)
تاريخ الإجازة
1/1/2018
مكان الإجازة
جامعة عين شمس - كلية الطب - Clinical Pathology
الفهرس
Only 14 pages are availabe for public view

from 194

from 194

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.