Abstract Search

ea0015oc22 | Tumours, diabetes, bone | SFEBES2008

Cataracts are a phenotypic feature of autosomal dominant hypocalcaemia with hypercalciuria (ADHH): lessons from the Nuf mouse model with an activating calcium sensing receptor (CaSR) mutation

Hannan Fadil , Curley Alan , Christie Paul , Harding Brian , Nesbit M Andrew , Cheeseman Michael , Bron Anthony , Thakker Rajesh

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...

0 shares

Endocrine Abstracts

Cataracts are a phenotypic feature of autosomal dominant hypocalcaemia with hypercalciuria (ADHH): lessons from the Nuf mouse model with an activating calcium sensing receptor (CaSR) mutation

BiosciAbstracts