Endocrine Abstracts

Ligand binding by the calcium-sensing receptor (CaSR), which belongs to family C of the G-protein coupled receptor super-family, activates the phospholipase C-inositol triphosphate pathway and leads to an increase in intracellular calcium. CaSR inactivating mutations result in the hypercalcaemic disorders of familial benign hypocalciuric hypercalcaemia (FBHH) and neonatal severe primary hyperparathyroidism (NSHPT), whilst activating mutations result in the hypocalcaemic disord...

Activating mutations of the calcium sensing receptor (CaSR) result in autosomal dominant hypocalcaemia with hypercalciuria (ADHH), in which patients may also suffer from polyuria, polydipsia, nephrocalcinosis, renal impairment, and ectopic calcification. A mouse model, Nuf, with an activating Leu723Gln CaSR mutation has been reported to develop the features of ADHH as well as cataracts that consist of dot nuclear opacities, which have not been described in ADHH patients...

Calcium sensing receptor (CaSR) mutations may result in either hypocalciuric hypercalcaemia or hypocalcaemic hypercalciuria due to a loss or gain of function, respectively. It has also been postulated that some gain of function CaSR mutations may result in idiopathic (i.e. normocalcaemic) hypercalciuria (IH). We reasoned that such CaSR mutations would lead to an early onset of IH and have sought for them in 12 unrelated children who were normocalcaemic and developed IH nephrol...

The calcium sensing receptor (CaSR) plays a central role in altering the secretion of parathyroid hormone (PTH) in response to alterations in extracellular calcium, and four studies have reported an association between CaSR polymorphisms and serum Ca 2+, serum PTH, and bone mineral density (BMD). However, two other studies have failed to detect such associations. We have therefore undertaken studies to investigate the Ala986Ser, Arg990Gly, and Gln1011Glu CaSR polymo...