[Activating mutations of calcium-sensing receptor cause insufficient secretion of parathyroid hormone].

Calcium-sensing receptor (CaSR) was cloned as an essential receptor for regulating secretion of parathyroid hormone (PTH) by extracellular Ca. Sensing of Ca by CaSR activates several intracellular signal transduction systems and suppresses secretion of PTH. Autosomal dominant hypocalcemia (ADH) with insufficient secretion of PTH was shown to be caused by activating mutations of CaSR. Clinical spectrum of ADH is broad from asymptomatic patients to severe hypocalcemia with tetany soon after birth. Some patients formerly believed to have idiopathic hypoparathyroidism may actually have activating mutations of CaSR.