hrp0094fc6.2 | Bone and Mineral Metabolism | ESPE2021

Long-term effectiveness of PTH(1-34) infusion therapy for autosomal dominant hypocalcaemia type 1.

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...