ea0065p86 | Bone and calcium | SFEBES2019
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...