Az extracelluláris kalciumkoncentráció érzékelése egészséges és kóros állapotokban

Judit Toke, Attila Patócs, Péter Gergics, Rita Bertalan, Miklós Tóth, Károly Rácz, Zsolt Tulassay

Research output: Review article

Abstract

Ionic calcium has been known as an important intracellular second messenger for many decades. In addition, a whole series of experimental and clinical studies from the past fifteen years have provided evidence that extracellular ionic calcium itself is also a first messenger, since it is the ligand of a cell surface G-protein coupled receptor called calcium-sensing receptor. This review summarizes the current knowledge on the role of calcium-sensing receptor in the maintenance of calcium homeostasis, its functions in various tissues and some of the most important disorders characterized by defective calcium sensing. The inherited disorders of the calcium-sensing receptors may be classified as the results of loss-of-function and gain-of-function mutations of the calcium-sensing receptor gene. Loss-of-function heterozygous mutations lead to familial hypocalciuric hypercalcemia while homozygous mutations result in the frequently life-threatening disorder called neonatal severe hyperparathyroidism. Gain-of-function mutations of this receptor's gene cause the disorder called autosomal dominant hypocalcemia. The authors briefly highlight the clinical features, laboratory characteristics and therapeutic implications of these disorders. Also, they discuss briefly the molecular mechanisms resulting defective calcium-sensing in of patients with primary and secondary hyperparathyroidism, and summarize the results of some recent investigations on the functional consequences of genetic variants of the calcium-sensing receptor gene.

Translated title of the contributionExtracellular calcium sensing under normal and pathological conditions
Original languageHungarian
Pages (from-to)781-790
Number of pages10
JournalOrvosi hetilap
Volume150
Issue number17
DOIs
Publication statusPublished - ápr. 1 2009

Keywords

  • Autosomal dominant hypocalcemia
  • Calcium-sensing receptor
  • Familial hypocalciuric hypercalcemia
  • Neonatal hyperparathyroidism
  • Primary hyperparathyroidism
  • Primary hyperparathyroidism hypocalcemia

ASJC Scopus subject areas

  • Medicine(all)

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