Familial hypercalcemia and hypercalciuria: no mutations in the Ca2+-sensing receptor gene

Authors
Rodriguez-Soriano, J Vallo, A Quintela, MJ de Nanclares, GP Bilbao, JR Castano, L
Citation
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
Citations number
17
Categorie Soggetti
Pediatrics
Journal title
PEDIATRIC NEPHROLOGY
ISSN journal
0931041X → ACNP
Volume
16
Issue
9
Year of publication
2001
Pages
748 - 751
Database
ISI
SICI code
0931-041X(200109)16:9<748:FHAHNM>2.0.ZU;2-W
Abstract
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.