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Hyperparathyroidism complicating CYP 24A1 mutations.

Camille Loyer1, Clara Leroy1, Arnaud Molin2

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Summary
This summary is machine-generated.

CYP24A1 gene mutations can cause adult hypercalcemia, mimicking primary hyperparathyroidism. This condition may evolve, requiring interventions like surgery and cinacalcet for symptom management.

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Area of Science:

  • Endocrinology
  • Genetics
  • Nephrology

Background:

  • CYP24A1 gene mutations are known to cause infantile hypercalcemia.
  • The adult phenotype of CYP24A1 mutations remains poorly understood.
  • High 1,25(OH)2D and low PTH levels characterize the infantile form.

Observation:

  • Two adult patients presented with nephrolithiasis, hypertension, hypercalcemia, and hypercalciuria.
  • They exhibited normal 25-OHD levels and inappropriately normal/high PTH levels, suggesting primary hyperparathyroidism.
  • Surgical intervention improved hypercalciuria, but hypercalcemia persisted, leading to cinacalcet treatment.

Findings:

  • A high 25-OHD3/24,25-(OH)2D3 ratio (>100) indicated CYP24A1 mutations, confirmed by Sanger sequencing.
  • The adult phenotype can evolve from hypercalcemia with suppressed PTH to a state resembling primary hyperparathyroidism.
  • This evolution may involve parathyroid adenoma or hyperplasia, with surgery improving kidney function.

Implications:

  • CYP24A1 mutations can present as a hyperparathyroidism phenocopy in adults.
  • This condition may progress to actual hyperparathyroidism over time.
  • Understanding this evolving phenotype is crucial for accurate diagnosis and management.