Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C

• Hoofdauteurs: Keun Hee Choi (Auteur), Choong Ho Shin (Auteur), Sei Won Yang (Auteur), Hae Il Cheong (Auteur)
• Formaat: Boek
• Gepubliceerd in: Korean Pediatric Society, 2015-04-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

The calcium sensing receptor (CaSR) plays an important role in calcium homeostasis. Activating mutations of CaSR cause autosomal dominant hypocalcemia by affecting parathyroid hormone secretion in parathyroid gland and calcium resorption in kidney. They can also cause a type 5 Bartter syndrome by in...