ea0057027 | A curious case of hypercalcemia, hypercalciuria and recurrent nephrolithiases | BES2018
, Hannon H
, D'Haese P
, Evenepoel P
, Decallonne B
Background: Most patients consulting an endocrinologist for hypercalcemia suffer from primary hyperparathyroidism. Rarely, toxic vitamin D levels can also induce hypercalcemia while suppressing parathyroid hormone (PTH) levels. Infantile hypercalcemia can be caused by mutations in CYP24A1 (24-hydroxylase), which are inherited in an autosomal recessive manner (1). This enzyme is responsible for the inactivation of 25-OH-vitaminD (25-OHD) and 1,25(OH)2vitaminD3</...