hrp0098p1-220 | Bone, Growth Plate and Mineral Metabolism 3 | ESPE2024

Safety and efficacy of continuous subcutaneous PTH (1-34) infusion therapy (CSPI) for severe autosomal dominant hypocalcaemia type 1 (ADH1) in Children and Young People (CYP)

Perogiannaki Aikaterini , Meshari Alattar Mohammad , Baske Kishore , Gorrigan Rebecca J. , Smith Oladimeji , Pullen Debbie , Sankaranarayanan Sailesh , Allgrove Jeremy , Gevers Evelien

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...