hrp0094fc6.2 | Bone and Mineral Metabolism | ESPE2021
Sastre Ana
, Valentino Kevin
, Hannan Fadil M
, Lines Kate E
, Gluck Anna K
, Stevenson Mark
, Ryalls Michael
, Gorrigan Rebecca
, Pullen Debbie
, Buck Jackie
, Sankar Sailesh
, Allgrove Jeremy
, Thakker Rajesh V
, Gevers Evelien F
,
Background: Patients with autosomal dominant hypocalcemia type 1 (ADH1), due to germline gain-of-function calcium-sensing receptor (CASR) mutations, have hypocalcemia and seizures, hyperphosphatemia, hypercalciuria and inappropriately low parathyroid hormone (PTH) concentrations. Treatment for ADH1 comprises calcium and vitamin D analogs, however, their use predisposes to nephrocalcinosis and renal impairment. In contrast, recombinant human PTH(1-34) may incre...