|
|||||
|
|
Familial hypercalcemia and hypercalciuria: no mutations in the Ca2+-sensing receptor gene |
|
| Authors: | Rodríguez-Soriano J Vallo A Quintela M J Pérez de Nanclares G Bilbao J R Castaño L |
| Affiliation: | (1) Department of Pediatrics, Hospital de Cruces, Plaza de Cruces s/n, Baracaldo, 48903 Vizcaya, Spain. jrs00014@teleline.es, ES;(2) Department of Pediatrics, Hospital de Cruces and Basque University School of Medicine, Bilbao, País Vasco, Spain, ES;(3) Division of Pediatric Nephrology and Research Unit, Hospital de Cruces and Basque University School of Medicine, Bilbao, País Vasco, Spain, ES |
| Abstract: | A 6-year-old boy presented with persistent hypercalcemia, hypercalciuria and nephrocalcinosis from early infancy. His 40-year-old father also had hypercalcemia and hypercalciuria. In both individuals serum values of intact parathyroid hormone (PTH) were repeatedly normal. Although these findings suggest a functional abnormality of the calcium-sensing receptor (CaR), no mutations in coding regions of the CaR gene could be demonstrated. Received: 2 January 2001 / Revised: 2 May 2001 / Accepted: 2 May 2001 |
| Keywords: | Hypercalcemia Hypercalciuria Infancy Calcium-sensing receptor |
| 本文献已被 PubMed SpringerLink 等数据库收录！ | |