Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome
R Vargas-Poussou, C Huang, P Hulin… - Journal of the …, 2002 - journals.lww.com
The extracellular Ca 2+-sensing receptor (CaSR) plays an essential role in extracellular Ca
2+ homeostasis by regulating the rate of parathyroid hormone (PTH) secretion and the rate
of calcium reabsorption by the kidney. Activation of the renal CaSR is thought to inhibit
paracellular divalent cation reabsorption in the cortical ascending limb (cTAL) both directly
and indirectly via a decrease in NaCl transport. However, in patients with autosomal
dominant hypocalcemia (ADH), caused by CaSR gain-of-function mutations, a defect in …
2+ homeostasis by regulating the rate of parathyroid hormone (PTH) secretion and the rate
of calcium reabsorption by the kidney. Activation of the renal CaSR is thought to inhibit
paracellular divalent cation reabsorption in the cortical ascending limb (cTAL) both directly
and indirectly via a decrease in NaCl transport. However, in patients with autosomal
dominant hypocalcemia (ADH), caused by CaSR gain-of-function mutations, a defect in …