Familial hypocalciuric hypercalcaemia

external

• Synonyms

  • CaSR mutation
  • Calcium-sensing receptor mutation
  • Familial benign hypocalciuric hypercalcaemia
  • FBHH

• Effects

  • Hypocalciuria
  • Hypercalcaemia
  • Excess parathyroid hormone

• Parents

  • Autosomal dominant congenital metabolic disease

• Description

  • "Urinary calcium:creatinine clearance ratio < 0.01 Chromosome 3 or 9"