- autosomal dominant
- mutation in gene on long arm of chromosome 3 encoding for calcium ion sensing G protein coupled receptor in kidney and parathyroid gland
- characterised by lifelong asymptomatic hypercalcemia associated with a relative hypocalciuria and a tendency to hypermagnesemia
- most are misdiagnosed as hyperparathyrodisim, but difference is in FHH, urinary calcium excretion
is low
- commonest presentation is renal stone, and rarely acute pancreatitis
- PTH levels are normal or slightly raised and urinary calcium is low
- can be differentiated from hyperparathyroidism by the calcium creatinine ratio in blood and urine
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