Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalcet


Atay Z., BEREKET A., Haliloglu B., Abali S. , Ozdogan T., Altuncu E., ...More

BONE, vol.64, pp.102-107, 2014 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 64
  • Publication Date: 2014
  • Doi Number: 10.1016/j.bone.2014.04.010
  • Title of Journal : BONE
  • Page Numbers: pp.102-107
  • Keywords: Neonatal severe hyperparathyroidism, Calcium-sensing receptor, Mutation, Calcimimetic, FAMILIAL HYPOCALCIURIC HYPERCALCEMIA, PAMIDRONATE, RESCUE

Abstract

Background: NSHPT is a life-threatening disorder caused by homozygous inactivating calcium-sensing receptor (CASR) mutations. In some cases, the CaSR allosteric activator, cinacalcet, may reduce serum PTH and calcium levels, but surgery is the treatment of choice.