Journal
BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY
Volume 22, Issue 1, Pages 129-148Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.berh.2007.11.006
Keywords
seven transmembrane receptor; mutations; polymorphisms; calcium-sensing receptor; calcium homeostasis; calcimimetic; calcilytic; familial hypocalciuric hypercalcaemia
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Funding
- NIDDK NIH HHS [K08 DK076733-02] Funding Source: Medline
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The extracellular calcium (Ca-o(2+))-sensing receptor (CaSR) enables the parathyroid glands and other CaSR-expressing cells involved in calcium homeostasis, such as the kidney and bone, to and to respond with changes in function that are directed sense alterations in the level of Ca-o(2+) at normalizing the blood calcium concentration. Several disorders of Ca-o(2+). sensing arise from inherited or acquired abnormalities that 'reset' the serum calcium concentration upwards or downwards. Heterozygous inactivating mutations of the CaSR produce a benign form of hypercalcaemia, termed 'familial hypocalciuric hypercalcaemia', while homozygous mutations produce a much more severe hypercalcaemic disorder resulting from marked hyperparathyroidism, called 'neonatal severe hyperparathyroidism'. Activating mutations cause a hypocalcaemic syndrome of varying severity, termed 'autosomal-dominant hypocalcaemia or hypoparathyroidism' as well as Bartter's syndrome type V Calcimimetic CaSR activators and calcilytic CaSR antagonists have also been developed with potential for use in the treatment of these disorders.
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