ea0090rc8.4 | Rapid Communications 8: Calcium and Bone | ECE2023
Collins Michael
, Hartley Iris
, Roszko Kelly
, Nemeth Edward
, Pozo Karen
, Boykin Winsome
, Mathew Arun
, Roberts Mary Scott
, Adler Scott
Autosomal dominant hypocalcemia type 1 (ADH1), caused by gain-of-function calcium-sensing receptor gene (CASR) variants, is characterized by low parathyroid hormone (PTH) levels, hypocalcemia, hypercalciuria, hyperphosphatemia and hypomagnesemia. Conventional therapy (calcium and active vitamin D) worsens hypercalciuria, which may result in renal complications. Calcilytics, such as encaleret, are negative allosteric modulators of the calcium-sensing receptor (CaSR). T...