ea0048o5 | Oral Communications | SFEEU2017
Gorrigan Rebecca
, Stiles Craig
, Shaho Shang
, Bolding Nathalie
, Allgrove Jeremy
, Ashman Neil
, Drake William
The calcium-sensing receptor (CaSR) is a G-protein coupled receptor expressed in the parathyroid gland and kidneys. Loss of function mutations of the CaSR result in familial hypocalciuric hypercalcaemia (FHH). Rarer, gain of function mutations of the CaSR result in hypercalciuric hypocalcaemia and are inherited in an autosomal dominant pattern. The phenotype varies from asymptomatic individuals, to profound hypocalcaemia. We present a severely affected individual whose case hi...