ea0081rc8.2 | Rapid Communications 8: Calcium and Bone | ECE2022
Gafni Rachel
, Hartley Iris
, Roszko Kelly
, Pozo Karen
, Nemeth Edward
, Sani-Grosso Ramei
, Mathew Arun
, Sridhar Ananth
, Scott Roberts Mary
, Fox Jonathan
, Collins Michael
Autosomal dominant hypocalcemia type 1 (ADH1), caused by gain-of-function variants in the calcium-sensing receptor (CaSR, gene: CASR) and is characterized by hypocalcemia, hyperphosphatemia, low parathyroid hormone (PTH), and hypercalciuria. Calcilytics (negative allosteric modulators of the CaSR) decrease the sensitivity of activated receptors to extracellular calcium and normalize blood and urine abnormalities in ADH1 rodent models. Encaleret is an oral calcilytic u...