Searchable abstracts of presentations at key conferences on calcified tissues

ba0006p135 | (1) | ICCBH2017

Continuous subcutaneous PTH infusion in autosomal dominant hypocalcaemia

Gevers Evelien , Buck Jacqui , Ashman Neil , Thakker Rajesh , Allgrove Jeremy

Objectives: Autosomal Dominant Hypocalcaemia (ADH) is due to gain-of-function mutations of the CASR resulting in constitutive activation of the GPCR Calcium Sensing Receptor (CaSR) leading to hypercalciuric hypocalcaemia, hypoparathyroidism and occasionally Bartter syndrome type V. Patients usually present with hypocalcaemic seizures at young age. Conventional treatment is with Alfacalcidol and Calcium or PTH injections. We describe a series of five patients with ADH ...