ESPE Abstracts

Introduction: ADH1 is caused by Calcium Sensing Receptor (CaSR) gain of function (GoF) variants, leading to hypoparathyroidism, hypocalcaemia, seizures, hyperphosphatemia, hypomagnesaemia and severe hypercalciuria. Conventional treatment (Alphacalcidol, Calcium) predisposes to nephrocalcinosis and renal impairment and may not reduce seizures. We previously reported that CSPI by insulin pump effectively increased serum calcium concentrations and reduced seizure...

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...