[Calcium sensing receptor: physiology and pathology].
Calcium is a major ion in human metabolism and its level is highly controlled. This regulation is performed via the Calcium Sensing Receptor, a discovery which ten years ago led to the explanation of a number of clinical disorders. The syndromes caused by CaSR abnormalities are characterized by hypercalcemia or hypocalcemia, associated with inappropriate calciuria. An underlying genetic or auto-immune cause may be demonstrated. High blood calcium levels linked to mutations of the CaSR gene lead to familial hypocalciuric hypercalcemia and the neonatal and non neonatal forms with severe hypercalcemic. Hypocalcemia determined by mutations in the CaSR gene include autosomal dominant hypocalcemia and its sporadic form. Another clinical presentation similar to Bartter syndrome has been reported. Auto-antibodies directed against CaSRs, seen in auto-immune diseases, can lead to similar clinical presentations. Finally, CaSR polymorphisms modulate the range of blood calcium levels. With diagnosis of these diseases deleterious therapeutics can be avoided. The discovery of this receptor has led to new therapeutic prospects such as calcimimetics for hyperthyroidism.
Faivre-Defrance
F
F
Service d'Endocrinologie et Métabolisme, Clinique Marc Linquette, avenue du professeur Laguesse, CHRU Lille, 59037 Lille Cedex.
Marcelli-Tourvieille
S
S
Odou
M-F
MF
Porchet
N
N
Wemeau
J-L
JL
Vantyghem
M-C
MC
D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D006801:Humans; D006934:Hypercalcemia / Q000235:genetics / Q000473:pathology; D006996:Hypocalcemia / Q000473:pathology; D007231:Infant, Newborn; D009154:Mutation; D044169:Receptors, Calcium-Sensing / Q000235:genetics*
D044169:Receptors, Calcium-Sensing