title: Familial hypercalcemia and hypercalciuria: no mutations in the Ca2+-sensing receptor gene.
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.
authors.affiliation: Department of Pediatrics, Hospital de Cruces and Basque University School of Medicine, Bilbao, País Vasco, Spain. jrs00014@teleline.es
authors.forename: J
authors.initials: J
authors.lastname: Rodríguez-Soriano
authors.forename: A
authors.initials: A
authors.lastname: Vallo
authors.forename: M J
authors.initials: MJ
authors.lastname: Quintela
authors.forename: G
authors.initials: G
authors.lastname: Pérez de Nanclares
authors.forename: J R
authors.initials: JR
authors.lastname: Bilbao
authors.forename: L
authors.initials: L
authors.lastname: Castaño
mesh_terms: D000328:Adult; D002118:Calcium / Q000652:urine*; D006801:Humans; D006934:Hypercalcemia / Q000235:genetics*; D006961:Hyperparathyroidism / Q000209:etiology; D007223:Infant; D008297:Male; D009154:Mutation; D010281:Parathyroid Hormone / Q000097:blood; D044169:Receptors, Calcium-Sensing; D011956:Receptors, Cell Surface / Q000235:genetics*
chemical_list: D010281:Parathyroid Hormone; D044169:Receptors, Calcium-Sensing; D011956:Receptors, Cell Surface; D002118:Calcium