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., et al.

BONE, cilt.64, ss.102-107, 2014 (SCI İndekslerine Giren Dergi)

Özet

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.