Diseases associated with calcium-sensing receptor.

摘要: The calcium-sensing receptor (CaSR) plays a pivotal role in systemic calcium metabolism by regulating parathyroid hormone secretion and urinary excretion. diseases caused an abnormality of the CaSR are genetically determined or more rarely acquired. genetic consist hyper- hypocalcemia disorders. Hypercalcaemia disorders related to inactivating mutations CASR gene either heterozygous (autosomal dominant familial benign hypercalcaemia, still named hypocalciuric hypercalcaemia syndrome type 1) homozygous (severe neonatal hyperparathyroidism). A986S, R990G Q1011E variants associated with higher serum levels than general population, hypercalciuria being also variant. differential diagnosis consists syndrome, types 2 (involving GNA11 gene) 3 AP2S1 gene); hyperparathyroidism; abnormalities vitamin D metabolism, involving CYP24A1 SLC34A1 genes; reduced GFR. Hypocalcemia disorders, which rare, activating (type 1), consisting autosomal sometimes presentation pseudo-Bartter's syndrome. hypercalciuric hypocalcaemia 2, other hypoparathyroidism aetiologies. acquired presence anti-CaSR antibodies, can cause especially (for instance APECED syndromes), their functionality. Finally, digestive, respiratory, cardiovascular neoplastic is gradually coming light, providing new therapeutic possibilities. Two modulators known: agonists (or activators, calcimimetics) calcilytic antagonists inhibitors CasR). agonists, such as cinacalcet, indicated secondary primary hyperparathyroidism. Calcilytics have no efficacy osteoporosis, but could be useful treatment syndromes.