IMPE Abstracts

Autosomal dominant hypocalcemia type 1 (ADH1), caused by gain-of-function variants in the calcium-sensing receptor (CaSR) gene, is characterized by low parathyroid hormone (PTH), hypocalcemia, hypercalciuria, hyperphosphatemia, and hypomagnesemia. Patients usually present in childhood, at a median age of 4y, often with severe symptoms of hypocalcemia. Conventional therapy (calcium and active vitamin D) worsens hypercalciuria and can lead to renal morbidity. Calcilytics that ac...