Case report: vitamin D‐dependent rickets type 1 caused by a novel <i><scp>CYP</scp>27B1</i> mutation

Füchtbauer, Laila Maria; Brusgaard, Klaus; Ledaal, Pål; Frost, Morten; Frederiksen, Anja Lisbeth

doi:10.1002/ccr3.406

Cited by 12 publications

(3 citation statements)

References 26 publications

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“…Indeed, several published case studies of adult individuals with various skeletal abnormalities have used normative reference data to characterize their bone quality status. While some of these cases involved patients of normal height relative to their respective reference population [8,9], it is not surprising that other cases involved subjects with abnormal stature [10,11]. The interpretation of new patient scans could be made more reliable if scan protocols are established to match the mean anatomic position (%-of-total-length) of the region of interest for the reference population.…”

Section: Discussionmentioning

confidence: 99%

The comparability of HR-pQCT bone measurements is improved by scanning anatomically standardized regions

et al. 2017

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Introduction High-resolution peripheral quantitative computed tomography (HR-pQCT) measures of bone do not account for anatomic variability in bone length: a 1-cm volume is acquired at a fixed offset from an anatomic landmark. Our goal was to evaluate HR-pQCT measurement variability introduced by imaging fixed vs. proportional volumes and to propose a standard protocol for relative anatomic positioning. Methods Double-length (2-cm) scans were acquired in 30 adults. We compared measurements from 1-cm subvolumes located at the default fixed offset, and the average %-of-length offset. The average position corresponded to 4.0% ± 1.1 mm for radius, and 7.2% ± 2.2 mm for tibia. We calculated the RMS difference in bone parameters and T-Scores to determine the measurement variability related to differences in limb length. We used anthropometric ratios to estimate the mean limb length for published HR-pQCT reference data, and then calculated mean %-of-length offsets. Results Variability between fixed vs. relative scan positions was highest in the radius, and for cortical bone in general (RMS difference Ct.Th = 19.5%), while individuals had T-score differentials as high as +3.0 SD (radius Ct.BMD). We estimated that average scan position for published HR-pQCT reference data corresponded to 4.0% at the radius, and 7.3% at tibia. Conclusion Variability in limb length introduces significant bias to HR-pQCT measures, confounding cross-sectional analyses and limiting the clinical application for individual assessment of skeletal status. We propose to standardize scan positioning using 4.0% and 7.3% of total bone length for the distal radius and tibia, respectively.

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Section: Discussionmentioning

confidence: 99%

The comparability of HR-pQCT bone measurements is improved by scanning anatomically standardized regions

et al. 2017

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“…The molecular structures of cloned CYP27B1 are identical in renal and extra-renal tissues [ 177 , 178 ]. Functionally, the activity of CYP27B1 in target cells regulates processes such as cell proliferation, differentiation, immune functions, and hormone secretion, but it is not directly involved in bone mineral metabolism.…”

Section: Key Physiological Functions Of Vitamin Dmentioning

confidence: 99%

Physiology of Vitamin D—Focusing on Disease Prevention

Wimalawansa

2024

Nutrients

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Vitamin D is a crucial micronutrient, critical to human health, and influences many physiological processes. Oral and skin-derived vitamin D is hydroxylated to form calcifediol (25(OH)D) in the liver, then to 1,25(OH)2D (calcitriol) in the kidney. Alongside the parathyroid hormone, calcitriol regulates neuro-musculoskeletal activities by tightly controlling blood-ionized calcium concentrations through intestinal calcium absorption, renal tubular reabsorption, and skeletal mineralization. Beyond its classical roles, evidence underscores the impact of vitamin D on the prevention and reduction of the severity of diverse conditions such as cardiovascular and metabolic diseases, autoimmune disorders, infection, and cancer. Peripheral target cells, like immune cells, obtain vitamin D and 25(OH)D through concentration-dependent diffusion from the circulation. Calcitriol is synthesized intracellularly in these cells from these precursors, which is crucial for their protective physiological actions. Its deficiency exacerbates inflammation, oxidative stress, and increased susceptibility to metabolic disorders and infections; deficiency also causes premature deaths. Thus, maintaining optimal serum levels above 40 ng/mL is vital for health and disease prevention. However, achieving it requires several times more than the government’s recommended vitamin D doses. Despite extensive published research, recommended daily intake and therapeutic serum 25(OH)D concentrations have lagged and are outdated, preventing people from benefiting. Evidence suggests that maintaining the 25(OH)D concentrations above 40 ng/mL with a range of 40–80 ng/mL in the population is optimal for disease prevention and reducing morbidities and mortality without adverse effects. The recommendation for individuals is to maintain serum 25(OH)D concentrations above 50 ng/mL (125 nmol/L) for optimal clinical outcomes. Insights from metabolomics, transcriptomics, and epigenetics offer promise for better clinical outcomes from vitamin D sufficiency. Given its broader positive impact on human health with minimal cost and little adverse effects, proactively integrating vitamin D assessment and supplementation into clinical practice promises significant benefits, including reduced healthcare costs. This review synthesized recent novel findings related to the physiology of vitamin D that have significant implications for disease prevention.

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“…There are two forms of Vit D, Ergocalciferol (Vit D 2 ) produced by plants and cholecalciferol (Vit D 3 ) which is generated by animal tissues and in humans, synthesized by the skin from 7-dehydrocholestrol under the action of ultraviolet light (1). Whether it is digested or synthesized in the skin, Vit D is a prohormone or inactive hormone that can be activated during a sequential hydroxylation done by two major mitochondrial cytochrome P450 liver, and renal enzymes which named Vit D 25-hydroxylase and 25-hydroxy Vit D-1α-hydroxylase (1α-OHase), respectively (1)(2)(3). When the blood levels of calcium or 1,25(OH) 2 D decreases and phosphate increases, parathyroid hormone (PTH) is released (3).…”

Section: Introductionmentioning

confidence: 99%

Late Onset of Vitamin D-Dependent Rickets Presenting with 8 years of Low Back Pain: A Case Report

Arjmandzadeh

Ghanei

Owlia

et al. 2017

IMMINV

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Vitamin D (Vit D) is a prohormone that can be activated during a sequential hydroxylation done by two major mitochondrial cytochrome P450 liver and renal enzymes. Vit D-dependent rickets type 1 (VDDR1) is a rare autosomal recessive hereditary disorder resulting from defective renal 1α-OHase presenting with severe rickets, hypocalcemia, and secondary hyperparathyroidism. Although homozygous Vit D hydroxylation deficient patients develop severe rickets symptom and signs before the age of 12 months, heterozygous types have minor symptoms and are extremely rare presenting as late as 14 years after birthday. Here we present a suspicious case of VDDR1 at 21 years old of age with mild symptoms and signs.

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Case report: vitamin D‐dependent rickets type 1 caused by a novel CYP27B1 mutation

Cited by 12 publications

References 26 publications

The comparability of HR-pQCT bone measurements is improved by scanning anatomically standardized regions

The comparability of HR-pQCT bone measurements is improved by scanning anatomically standardized regions

Physiology of Vitamin D—Focusing on Disease Prevention

Late Onset of Vitamin D-Dependent Rickets Presenting with 8 years of Low Back Pain: A Case Report

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