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Related Experiment Videos

A familial syndrome of decrease in sensitivity to 1,25-dihydroxyvitamin D.

S J Marx, A M Spiegel, E M Brown

    The Journal of Clinical Endocrinology and Metabolism
    |December 1, 1978
    PubMed
    Summary
    This summary is machine-generated.

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    Hereditary vitamin D-dependent rickets in siblings was caused by decreased sensitivity to 1,25-dihydroxyvitamin D. Treatment with high-dose vitamin D metabolites corrected rickets and osteomalacia.

    Area of Science:

    • Endocrinology
    • Genetics
    • Metabolic Bone Disease

    Background:

    • Hereditary vitamin D-dependent rickets (VDDR) is a rare genetic disorder affecting vitamin D metabolism.
    • It is characterized by rickets and osteomalacia due to impaired vitamin D action.

    Observation:

    • A brother and sister presented with typical features of hereditary vitamin D-dependent rickets.
    • Both siblings exhibited calcium malabsorption, hypocalcemia, secondary hyperparathyroidism, and hypophosphatemia.
    • Elevated serum concentrations of 1,25-dihydroxyvitamin D were observed during hypocalcemic periods.

    Findings:

    • Treatment with high doses of ergocalciferol or 1,25-dihydroxycholecalciferol normalized serum calcium and resolved osteomalacia.
    • Correction of vitamin D deficiency features occurred despite high endogenous 1,25-dihydroxyvitamin D levels.

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  • First-degree relatives had normal vitamin D metabolite levels, suggesting a specific genetic defect.

    • Implications:

    • The findings suggest a hereditary decreased sensitivity to 1,25-dihydroxyvitamin D in target tissues, likely the intestine.
    • This condition represents a distinct form of vitamin D resistance.
    • Understanding this mechanism is crucial for diagnosing and managing rare vitamin D-related bone disorders.