Familial Hypocalciuric Hypercalcemia - Clinical Features

Clinical Features

  • Most cases: Asymptomatic (unlike primary hyperparathyroidism)
  • Hypercalcaemia
  • Hypocalciuria ( Ca excretion rate < 0.02 mmol/L).
  • Normal to high PTH (CaSR mutation causes the parathyroid glands to be less sensitive to serum calcium, resulting in normal to high PTH despite elevated serum calcium)
  • Hypermagnesaemia
  • Green colored urine

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