Vitamin D-Dependent Rickets Type 1: A Rare, but Treatable, Cause of Severe Hypotonia in Infancy

2011 ◽  
Vol 26 (12) ◽  
pp. 1571-1575 ◽  
Author(s):  
Yun Yan ◽  
Ali S. Calikoglu ◽  
Nina Jain
Keyword(s):  
Vitamin D ◽  
Alkaline Phosphatase ◽  
Parathyroid Hormone ◽  
Tubular Dysfunction ◽  
Exon 2 ◽  
Hormone Levels ◽  
Hydroxyvitamin D ◽  
Severe Hypotonia ◽  
25 Hydroxyvitamin D

Vitamin D-dependent rickets type 1 is an autosomal recessive disorder caused by an inactivating mutation of the 25-hydroxyvitamin-D-1α-hydroxylase (CYP27B1) gene. Clinical presentation is characterized by early onset of severe rickets and can include severe hypotonia. Here, we report a 16-month-old white male who presented with severe muscle weakness, failure to thrive, renal tubular dysfunction, and skeletal deformities, including osteopenia and multiple fractures. At presentation, he had severe hypocalcemia, hypophosphatemia, hypomagnesemia, and elevated alkaline phosphatase and parathyroid hormone levels, although normal 25-hydroxyvitamin D levels. DNA sequencing of the CYP27B1 gene revealed a novel mutation in exon 2 (c286_300de115) and a previously reported mutation in exon 7 (c.1166G>A). Once calcitriol therapy was initiated, the patient showed significant improvement in muscle strength and linear growth. Serum calcium, phosphorous, and alkaline phosphatase returned to normal range. Organic aciduria resolved and aminoaciduria significantly improved 2 months after parathyroid hormone levels normalized.

Vitamin D Dose Response Study: Effect on Serum 25-Hydroxyvitamin D and Parathyroid Hormone

2011 ◽  
pp. S60-1-S60-1
Author(s):  
J Christopher Gallagher ◽  
Adarsh Sai ◽  
Thomas J Templin ◽  
Lynette M Smith
Keyword(s):  
Vitamin D ◽  
Parathyroid Hormone ◽  
Dose Response ◽  
Hydroxyvitamin D ◽  
25 Hydroxyvitamin D ◽  
Dose Response Study

scholarly journals Vitamin D status in children with autoimmune thyroiditis

2017 ◽  
Vol 4 (5) ◽  
pp. 1595
Author(s):  
Gomathi Priya J ◽  
Seenivasan Venkatasamy ◽  
Karamath S Pyarejan ◽  
Jayachandran K.
Keyword(s):  
Vitamin D ◽  
Alkaline Phosphatase ◽  
Serum Calcium ◽  
Autoimmune Thyroiditis ◽  
Causal Factor ◽  
Vitamin D Status ◽  
Hydroxyvitamin D ◽  
Vitamin D Levels ◽  
Significant Difference ◽  
25 Hydroxyvitamin D

Background: Deficiency of 25 hydroxyvitamin D has been linked with predisposition to autoimmune disorders. Also, vitamin D has been found to be a causal factor in many autoimmune diseases. Objective of the study was to investigate vitamin D status in children with autoimmune thyroiditis attending endocrinology OPD at a tertiary centre in southern India.Methods: It is a case control study done in which 75 children (70 female, 5 male) with age and sex matched healthy controls were chosen. Free thyroxine, TSH, anti TPOAb, anti TGAb, 25 hydroxyvitamin D, serum calcium, phosphorus, alkaline phosphatase levels were estimated in both cases and control subjects. Children with anti TPO or anti TG positivity were divided into four groups based on their level of antibody titers.Results: The mean age in cases was 9.8±0.34 years. 25(OH)D levels were significantly lower in cases (15.07±1.14 ng/ml) compared to controls (17.82±1.13 ng/ml) (p<0.0006). Mean serum calcium levels in cases (9.35±0.16 mg/dl) were significantly lower when compared to controls (9.73±0.14 mg/dl) (p<0.0005). Similarly mean serum alkaline phosphatase level in cases (184.97±11.10 IU/L) were significantly elevated when compared with controls (122.37±6.82 IU/L) (p<0.0001). However, there was no significant difference in serum phosphorus levels between cases (4.42±0.10 mg/dl) and controls (4.43±0.14 mg/dl) (p=0.83). There was no significant difference in vitamin D level among the groups in both anti TPO (p< 0.283) and anti TG (p<0.148).Conclusions: The significant decrease in vitamin D levels in cases signifies that 25(OH)D may be an independent causal factor related to the autoimmunity in thyroid diseases. 

scholarly journals Vitamin D and Type 1 Diabetes Risk: A Systematic Review and Meta-Analysis of Genetic Evidence

Nutrients ◽  
2021 ◽  
Vol 13 (12) ◽  
pp. 4260
Author(s):  
Liana Najjar ◽  
Joshua Sutherland ◽  
Ang Zhou ◽  
Elina Hyppönen
Keyword(s):  
Systematic Review ◽  
Vitamin D ◽  
Type 1 Diabetes ◽  
Meta Analysis ◽  
Low Frequency ◽  
Nucleotide Polymorphisms ◽  
Hydroxyvitamin D ◽  
Quantitative Synthesis ◽  
25 Hydroxyvitamin D

Several observational studies have examined vitamin D pathway polymorphisms and their association with type 1 diabetes (T1D) susceptibility, with inconclusive results. We aimed to perform a systematic review and meta-analysis assessing associations between selected variants affecting 25-hydroxyvitamin D [25(OH)D] and T1D risk. We conducted a systematic search of Medline, Embase, Web of Science and OpenGWAS updated in April 2021. The following keywords “vitamin D” and/or “single nucleotide polymorphisms (SNPs)” and “T1D” were selected to identify relevant articles. Seven SNPs (or their proxies) in six genes were analysed: CYP2R1 rs10741657, CYP2R1 (low frequency) rs117913124, DHCR7/NADSYN1 rs12785878, GC rs3755967, CYP24A1 rs17216707, AMDHD1 rs10745742 and SEC23A rs8018720. Seven case-control and three cohort studies were eligible for quantitative synthesis (n = 10). Meta-analysis results suggested no association with T1D (range of pooled ORs for all SNPs: 0.97–1.02; p > 0.01). Heterogeneity was found in DHCR7/NADSYN1 rs12785878 (I2: 64.8%, p = 0.02). Sensitivity analysis showed exclusion of any single study did not alter the overall pooled effect. No association with T1D was observed among a Caucasian subgroup. In conclusion, the evidence from the meta-analysis indicates a null association between selected variants affecting serum 25(OH)D concentrations and T1D.

scholarly journals Oral vitamin D supplementation has a lower bioavailability and reduces hypersecretion of parathyroid hormone and insulin resistance in obese Chinese males

2014 ◽  
Vol 18 (12) ◽  
pp. 2211-2219 ◽  
Author(s):  
Ji-Chang Zhou ◽  
Yu-Mei Zhu ◽  
Zheng Chen ◽  
Jun-Luan Mo ◽  
Feng-Zhu Xie ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Vitamin D ◽  
Parathyroid Hormone ◽  
Vitamin D Supplementation ◽  
Normal Weight ◽  
Vitamin D Status ◽  
Intervention Trial ◽  
Oral Vitamin ◽  
Hydroxyvitamin D ◽  
25 Hydroxyvitamin D

AbstractObjectiveTo examine the vitamin D status, SNP of the vitamin D receptor gene (VDR) and the effects of vitamin D supplementation on parathyroid hormone and insulin secretion in adult males with obesity or normal weight in a subtropical Chinese city.DesignAn intervention trial.SettingShenzhen City, Guangdong Province, China.SubjectsFrom a cross-sectional survey conducted from June to July, eighty-two normal-weight and ninety-nine obese males (18–69 years) were screened to analyse their vitamin D status and for five SNP of VDR. From these individuals, in the same season of a different year, obese and normal-weight male volunteers (twenty-one per group) were included for an intervention trial with oral vitamin D supplementation at 1250 µg/week for 8 weeks.ResultsFor the survey, there was no significant difference (P>0·05) in baseline circulating 25-hydroxyvitamin D concentrations or in the percentages of participants in different categories of vitamin D status between the two groups. The VDR SNP, rs3782905, was significantly associated with obesity (P=0·043), but none of the examined SNP were correlated with serum 25-hydroxyvitamin D when adjusted for age, BMI and study group. After vitamin D supplementation, serum 25-hydroxyvitamin D concentration, hypersecretions of parathyroid hormone and insulin, and insulin resistance in the obese were changed beneficially (P<0·05); however, the increase in serum 25-hydroxyvitamin D was less than that of the normal-weight men.ConclusionsFor obese and normal-weight men of subtropical China, the summer baseline vitamin D status was similar. However, oral vitamin D supplementation revealed a decreased bioavailability of vitamin D in obese men and ameliorated their hypersecretion of parathyroid hormone and insulin resistance.

scholarly journals ASSOCIATION BETWEEN 25-HYDROXYVITAMIN D AND INTACT PARATHYROID HORMONE LEVELS ACROSS LATITUDE AMONG ADULTS WITH AFRICAN ANCESTRY

2016 ◽  
Vol 22 (8) ◽  
pp. 911-919 ◽  
Author(s):  
Holly Kramer ◽  
Pauline Camacho ◽  
John Aloia ◽  
Amy Luke ◽  
Pascal Bovet ◽  
...  
Keyword(s):  
Parathyroid Hormone ◽  
African Ancestry ◽  
Intact Parathyroid Hormone ◽  
Hormone Levels ◽  
Hydroxyvitamin D ◽  
25 Hydroxyvitamin D
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