Familial hypocalciuric hypercalcaemia is an autosomal dominant disease. The
pathophysiology is due to a defective calcium receptor on the
membranes of the
parathyroid and renal
tubular cells. This results in a decreased renal clearance of calcium, PTH is usually
normal or increased, PO4 is usually decreased. Diagnosis is made on family history
and determination of low urinary calcium clearance. Typically, the Fractional Excretion of Ca
is <1%.
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Friday 11 May 2018
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