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., ...Daha Fazla

Bone, cilt.64, ss.102-7, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 64
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1016/j.bone.2014.04.010
  • Dergi Adı: Bone
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.102-7
  • Anahtar Kelimeler: Neonatal severe hyperparathyroidism, Calcium-sensing receptor, Mutation, Calcimimetic, FAMILIAL HYPOCALCIURIC HYPERCALCEMIA, PAMIDRONATE, RESCUE
  • Marmara Üniversitesi Adresli: Evet

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.