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Related Experiment Videos

Vitamin D dependency: replacement therapy with calcitriol?

E E Delvin, F H Glorieux, P J Marie

    The Journal of Pediatrics
    |July 1, 1981
    PubMed
    Summary

    Large doses of vitamin D can mask vitamin D-dependency type I, delaying diagnosis. Calcitriol treatment effectively normalized biochemical values and improved bone mineralization in affected children.

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    Area of Science:

    • Endocrinology
    • Pediatric Nephrology
    • Bone Metabolism

    Background:

    • Vitamin D-dependency type I is a rare genetic disorder affecting vitamin D metabolism.
    • Patients often present with hypocalcemia and hypophosphatemia due to impaired 1-alpha-hydroxylation of vitamin D.

    Observation:

    • Treatment with high-dose vitamin D in nine patients altered disease phenotype, complicating diagnosis.
    • Elevated serum parathyroid hormone and low 1,25-dihydroxyvitamin D were observed, with no vitamin D deficiency.
    • Renal phosphate and cAMP excretion showed variable responses to parathyroid hormone infusion.

    Findings:

    • Calcitriol treatment (0.25-2 microgram/day) normalized biochemical parameters within four months.
    • Histomorphometric analysis revealed severe osteomalacia in two patients on vitamin D supplementation.
    • Long-term calcitriol therapy led to improved bone mineralization histologically.

    Implications:

    • Early and accurate diagnosis of vitamin D-dependency type I is crucial.
    • Calcitriol is an effective treatment, normalizing metabolic abnormalities and improving bone health.
    • Continuous monitoring of biochemical markers is essential to adjust calcitriol dosage during treatment.

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