Searchable abstracts of presentations at key conferences in endocrinology

ea0019oc29 | Bone and Calcium | SFEBES2009

Nuf mice with an activating calcium sensing receptor mutation, Leu723Gln, have hypercalciuria and diabetes insipidus

Hannan F , Walls G , Nesbit M , Hough T , Shine B , Cheeseman M , Lyon M , Cox R , Thakker R

The calcium sensing receptor (CaSR) is a G protein coupled receptor that is expressed in the parathyroids and kidneys, where it plays a pivotal role in the regulation of extracellular calcium homeostasis. Patients with activating CaSR mutations have autosomal dominant hypocalcaemia with hypercalciuria (ADHH), which is associated with polydipsia, polyuria, nephrocalcinosis and renal impairment. The Nuf mouse, which has an activating CaSR mutation (Leu723Gln) has been reported t...