Searchable abstracts of presentations at key conferences in endocrinology

ea0026p655 | Clinical case reports | ECE2011

Impact of two novel mutations of calcium sensing receptor (CaSR) gene on calcium metabolism: two clinical case reports

Livadariu Elena , Auriemma Renata Simona , Rydlewski Catherine , Vandeva Silvia , Thonnard Anne Sophie , Betea Daniela , Daly Adrian F , Beckers Albert

Disorders of calcium metabolism arise in a familial or sporadic setting. The resulting hypo- or hypercalcemia can induce serious clinical features. Calcium sensing receptor (CaSR) plays a key role in maintaining this balance and its molecular investigation is useful to determine the nature of a certain condition or to choose the appropriate therapeutic approach.In the present study we reported two clinical cases. A 16-year-old patient had a mild hypercal...