ea0011p163 | Clinical case reports | ECE2006
Mahto R
, Tahrani A
, Macleod A
, Thakker RV
Objective: To describe a novel mutation of the calcium sensing receptor gene (CaSR) in a family diagnosed with familial hypocalciuric hypercalcemia (FHH).Case history: A 62 year old man being investigated for short term memory loss was referred to us by GP for hypercalcemia found on routine blood tests. He was asymptomatic otherwise. Repeat blood tests revealed serum calcium high at 2.88 mmol/l, inorganic phosphate of 0.75 mmol/l, and normal serum PTH of...