J. Rodriguez-soriano et al., Familial hypercalcemia and hypercalciuria: no mutations in the Ca2+-sensing receptor gene, PED NEPHROL, 16(9), 2001, pp. 748-751
A 6-year-old boy presented with persistent hypercalcemia, hypercalciuria an
d nephrocalcinosis from early infancy. His 40-year-old father also had hype
rcalcemia and hypercalciuria. In both individuals serum values of intact pa
rathyroid hormone (PTH) were repeatedly normal. Although these findings sug
gest a functional abnormality of the calcium-sensing receptor (CaR), no mut
ations in coding regions of the CaR gene could be demonstrated.