Searchable abstracts of presentations at key conferences in endocrinology

ea0065p86 | Bone and calcium | SFEBES2019

Effect of vitamin D analogue therapy in a patient with autosomal dominant hypocalcaemia type 2 (ADH2) due to GNA11 p.Arg60Leu mutation

Farrell Catriona , Hannan Fadil , George Jacob , Robinson Emma , McLean Joanne , Boon Hannah , Cranston Treena , Goudie David , Thakker Rajesh , Newey Paul

Background: Autosomal dominant hypocalcaemia (ADH) is most commonly due to activating mutations in the Calcium Sensing Receptor (ADH Type 1), in which treatment with vitamin D analogues is frequently associated with hypercalciuria. More recently, activating mutations in the alpha-subunit of the G-protein α-11 (Gα11), encoded by GNA11, have been identified in a small number of ADH kindreds (ADH Type 2). The impact of vitamin D analogue treatment in ADH2 patie...