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[Hypocalcemic vitamin D-dependent renal rickets].

L Velásquez Jones, E Arrocha Arrocha, A Rafael Chaparro

    Boletin Medico Del Hospital Infantil De Mexico
    |November 1, 1976
    PubMed
    Summary

    Vitamin D-dependent rickets, a genetic disorder, causes severe bone and mineral imbalances. Treatment with dihydrotaquisterol effectively resolved symptoms in affected siblings.

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    Area of Science:

    • Pediatric Endocrinology
    • Metabolic Bone Disease
    • Genetics

    Background:

    • Vitamin D-dependent rickets (VDDR) is a rare genetic disorder.
    • It stems from a defect in vitamin D metabolism, specifically the enzyme 25-hydroxy-D1-hydroxylase.
    • This defect prevents the formation of the active vitamin D metabolite, 1,25-dihydroxycholecalciferol.

    Observation:

    • Two siblings with VDDR presented with persistent rachitic manifestations since infancy.
    • Biochemical analysis revealed severe hypocalcemia, moderate hypophosphatemia, and elevated alkaline phosphatase.
    • Diminished renal tubular reabsorption of amino acids and phosphates was noted, reversible with IV calcium gluconate.

    Findings:

    • Patients with VDDR exhibited characteristic biochemical and clinical features of rickets.

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  • Despite high-dose vitamin D, symptoms persisted, indicating a metabolic defect rather than simple deficiency.
  • Successful treatment with dihydrotaquisterol normalized clinical, biochemical, and radiological findings within one year.

    • Implications:

    • Dihydrotaquisterol represents an effective therapeutic agent for vitamin D-dependent rickets.
    • Understanding the specific enzymatic defect is crucial for targeted treatment strategies.
    • Early diagnosis and intervention are vital to prevent severe complications in children with VDDR.