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Hereditary Vitamin-D Dependent Rickets Type II: A Case Report.

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Hereditary Vitamin D Dependent Rickets type II, a rare genetic disorder, showed improvement with cinacalcet. This treatment normalized calcium, phosphate, and parathyroid hormone levels in a child.

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Area of Science:

  • Pediatric Endocrinology
  • Genetic Metabolic Disorders
  • Nutritional Rickets

Background:

  • Hereditary Vitamin D Dependent Rickets type II (HVDRR) is a rare genetic disorder.
  • Characterized by early-onset rickets and distinctive biochemical abnormalities including hypocalcemia and elevated 1,25-dihydroxyvitamin D.
  • Standard treatment with calcium and calcitriol can be challenging.

Observation:

  • A case report details a 2.5-year-old child diagnosed with HVDRR.
  • The child exhibited typical clinical and biochemical features of the condition.
  • Initial treatment with high-dose oral calcium and calcitriol proved insufficient.

Findings:

  • Adjunctive oral cinacalcet (0.25mg/kg/day) was administered to the patient.
  • Significant radiological improvements were observed following cinacalcet initiation.
  • Homeostasis of calcium, phosphate, and parathyroid hormone levels was successfully restored.

Implications:

  • Cinacalcet may represent a viable therapeutic option for managing refractory HVDRR.
  • This case highlights the potential benefit of calcimimetics in pediatric bone disorders.
  • Further research is warranted to explore cinacalcet's efficacy and safety in HVDRR management.