scholarly journals BONE MINERAL DENSITY AND VITAMIN D RECEPTOR GENETIC VARIANTS IN EGYPTIAN CHILDREN WITH BETA THALASSEMIA ON VITAMIN D SUPPLEMENTATION

Author(s):  
Hadeer A Abbassy ◽  
Reham Abdel Haleem Abo Elwafa ◽  
Omneya Magdy Omar

Background: Low bone mineral density (BMD) is a characteristic feature of Beta thalassemia major (βTM) patients. Vitamin D is important for bone mineralization. Vitamin D receptors (VDR) genetic variants may be related to vitamin D status and BMD.Objectives:  To evaluate the effect of VDR genetic variants on vitamin D levels and BMD in βTM Egyptian patients supplemented with vitamin D.Methods: This study was conducted on forty children with βTM and forty unrelated healthy sex and age-matched controls. Serum calcium, phosphorus, ALP, ferritin and vitamin D were measured. VDR genetic variants (BsmI, TaqI, and FokI) were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). BMD was measured by dual-energy X-ray densitometry (DEXA) of the lumbar spine.Results: In βTM patients, 22.5% had deficient, 50% had insufficient and only 27.5% had sufficient levels of vitamin D. BMD Z score was significantly lower in βTM patients compared to controls (p<0.001). Osteopenia and osteoporosis of lumbar spines were observed in 70% and 22.5% of βTM patients respectively. BsmI bb and FokI Ff and ff genotypic variants were significantly associated with lower vitamin D and BMD Z score. No association was observed with TaqI genotypic variants.Conclusions: We reported a high prevalence of low BMD in βTM despite vitamin D supplementation. The BsmI bb, FokI Ff and ff genotypic variants of VDR can be considered as risk factors for the occurrence of osteoporosis in these children. Vitamin D doses should be adjusted individually according to the genetic makeup of each patient.

2016 ◽  
Vol 8 ◽  
pp. 2016004 ◽  
Author(s):  
Seham Ragab

Background:Osteoporosis is a major problem in beta thalassemia major (TM) patients. Increased oxidative stress and its controlling genes were linked to osteoporosis. Glutathione S-transferase P1 (GSTP1),Ile105 Val variant  is a functional  mutation with  reduced ant-oxidative property  .No data are available about this variant  or its association with osteoporosis  among thalassemia patients yet. Objectives: The aim of this study was to investigate Ile105Val polymorphism and its possible association with bone mineral density (BMD) values in a group of TM  children. Methods:Thirty five TM patients and 30 age and sex matched healthy controls were included. Liver and renal functions, serum ferritin, calcium, phosphorous, alkaline phosphatase and osteocalcin were assayed. BMD was determined by DXA with calculation of  Z-scores at lumbar spine (Ls) and femoral neck (Fn).Height for age z- score (HAZ) adjusted BMD Z-scores were considered . GSTP1 Ile105Val polymorphism was studied by polymerase chain reaction-restriction fragment length polymorphism. Results:The relative frequency of 105 Val allele was significantly higher in TM patients than the controls (P<0.0001). Significant association between genotype subgroups and BMD parameters was detected. Mutant homozygotes had significant lower BMD , Z –score and haz -adjusted BMD  Z-score at both Ls and Fn compared to wild homozygotes ( Ps =0.029, 0.008, 0.011, 0.001,0.02, 0.001) with significant higher osteocalcin level compared to heterozygotes and wild homozygotes (P=0.012 and P=0.013,respectively). Conclusion:  The results indicated that 105Val allele was frequent among TM patients and could increase their susceptibility to osteoporosis. Large sample studies are required to confirm these findings.  


2021 ◽  
pp. 1-33
Author(s):  
Signe Monrad Nørgaard ◽  
Christine Dalgård ◽  
Malene Søborg Heidemann ◽  
Anders Jørgen Schou ◽  
Henrik Thybo Christesen

Abstract Vitamin D supplementation in infancy is recommended to prevent rickets. At the population level, its effects on bone mineralisation are largely unknown. We aimed to explore whether adherence to national vitamin D supplementation guidelines (10 µg/day up to age 2 years), supplementation at ages 5 and 7 years, and serum 25-hydroxyvitamin D (s-25(OH)D) at various time points associated with bone mineral density (BMD) at age 7 years in the Odense Child Cohort, Denmark (n=1,194). High adherence was defined as supplementation with 10 µg vitamin D 6-7 times per week during ≥ 80 % of the observation time. S-25(OH)D was analysed using liquid chromatography-tandem mass spectrometry. Total-body-less-head (TBLH) BMD was measured by dual-energy X-ray absorptiometry. At median age 18.1 months, 53.9 % (n=475/881) reported high adherence. The median s-25(OH)D was 64.7, 78.8, 46.0, and 71.8 nmol/l in early pregnancy, late pregnancy, cord blood, and at 5 years, respectively. The mean (SD) TBLH BMD at median age 7.1 years was 0.613 (0.049) g/cm2 (z-score +0.363 (0.824)). In adjusted analyses, vitamin D supplementation up to 18 months, and at 5 and 7 years, was not associated with TBLH BMD. Similarly, no robust associations were found between TBLH BMD and s-25(OH)D at any time point. No associations were found for TBLH bone mineral concentration or bone area. In this population with relatively high s-25(OH)D concentrations, no consistent associations were found between adherence to vitamin D supplementation recommendations or vitamin D status in pregnancy or childhood, and bone mineralisation at age 7 years.


2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Indu Grover ◽  
Deepak Gunjan ◽  
Namrata Singh ◽  
Jaya Benjamin ◽  
Lakshmy Ramakrishnan ◽  
...  

2020 ◽  
Vol 35 (Supplement_3) ◽  
Author(s):  
Yuri Battaglia ◽  
Michele Provenzano ◽  
Francesco Tondolo ◽  
Antonio Bellasi ◽  
Pasquale Esposito ◽  
...  

Abstract Background and Aims In the medical literature, several studies have linked bone mineral density (BMD) with vitamin D deficiency in kidney transplant patients (KTRs). However, in spite of the fact that ergocalciferol, cholecalciferol and calcifediol reduce parathyroid hormone (PTH) and improves calcium levels, their effects on the bone mineral density (BMD) in KTRs remain undefined. In consideration of the lack of data available, we aim at investigating the effect of inactive form of vitamin D supplementation on the BMD over a follow-up period up to 2 year, in a real-life cohort of long-term kidney transplant(KT). Method This study was carried out in KTRs who were followed up in a Nephrology Unit. Exclusion criteria were parathyroidectomy, therapy with bisphosphonate, previous history of bone fractures. Demographic, clinical and immunosuppressive agents were collected. Based on 25-OH-D levels, KTRs were classified as suffering from deficiency (&lt; 30 ng/mL). BMD was evaluated at lumbar vertebral bodies (LV) and right femoral hip (FH) by a single operator, using a standard dual energy X-ray absorptiometry. According to WHO criteria, results were expressed as T-score (standard deviation [SD] relative to young healthy adults), and Z-score (SD relative to age-matched controls). Osteoporosis and osteopenia were defined as T score ≤ −2.5 SD and T score &lt; −1 and &gt; −2.5 SD, respectively. Laboratory data, 25-OH-D, and BMD were measured at baseline and after 24 months of supplementation therapy. Vitamin D deficiency was corrected using standard treatment strategy recommended for general population. Continuous variables were expressed as mean ± SD whereas categorical variables as percentage. The Student’s t test and chi-square test were used to compare to compare continuous and categorical variables, respectively. For before and after comparisons of continuous variables, the paired t-test or one-sample Wilcoxon signed rank test were used based on variable’s distribution. Results Data pertaining to 111 out of 133 consecutive outpatients were collected, of whom most were males (69.4%), no-smokers (89.1%) and treated with glucocorticoids (84%). The mean age was 53.9±11.6 years and months after transplant was 161.6±128.3. No statistical differences were found among patients with normal BMD, osteopenia or osteoporosis at LV and FH in terms of age at transplant, gender distribution, time on dialysis, BMI and eGFR, serum calcium, serum phosphate, 25-OH-D and iPTH. At baseline, 25-OH-D was 13.9±7.2 ng/ml and the prevalence of osteopenia/osteoporosis was 40.9% (T-Score -1.69±0.37; Z-score -1.16±1.09) and 21.8 % (T-Score -3.15±0.50; Z-score -2.27±0.58) at LV; 55.3 % (T-Score -1.8±0.46; Z-score -0.84±0.633) and 14 % (T-Score -2.83±0.39; Z-score -1.65±0.49) at FH. After 27.6±3.7 months of therapy with cholecalciferol at mean dose of 13.396±7.537 UI at week, 25-OH-D values increased to 29.4±9.4 ng/ml (p&lt;0.0001) while no statistically significant changes were found in Z-score and T-score at both sites, except for a mild improvement in lumbar vertebral Z-score, reaching −0.82± 0.7 (p = 0.06) in KTRs with osteopenia Conclusion Our study showed BMD remained stable after up to 2 years of inactive vitamin D therapy in long-term kidney transplant with vitamin D deficiency. A mild increase in Z-score was observed in the L-spine. Further designated studies should be conducted to demonstrate the effect of vitamin D on BMD.


2019 ◽  
Vol 49 (4) ◽  
pp. 292-298
Author(s):  
Indar K Sharawat ◽  
Lesa Dawman ◽  
Merabhai V Kumkhaniya ◽  
Kusum Devpura ◽  
Amarjeet Mehta

Glucocorticoids are first-line therapy for children with idiopathic nephrotic syndrome (INS). These children are at risk of deranged bone metabolism and low bone mineral density (BMD). We studied 60 children with INS and divided them into two groups. Group 1 included 21 children (initial and infrequent relapsing) and group 2 included 39 children (frequent relapsing, steroid dependent and steroid resistant). Dual-energy X-ray absorptiometry of the lumbar spine was performed to assess BMD. Mean BMD Z-score was compared in both groups; this correlated significantly on univariate analysis with cumulative steroid dose, serum vitamin D levels and calcium supplementation. However, on multivariate analysis, serum vitamin D level was the only factor significantly predictive of low z-score.


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