Familial hypercalcemia and hypercalciuria: no mutations in the Ca2+-sensing receptor gene.
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.
Rodríguez-Soriano
J
J
Department of Pediatrics, Hospital de Cruces and Basque University School of Medicine, Bilbao, País Vasco, Spain. jrs00014@teleline.es
Vallo
A
A
Quintela
M J
MJ
Pérez de Nanclares
G
G
Bilbao
J R
JR
Castaño
L
L
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*
D010281:Parathyroid Hormone; D044169:Receptors, Calcium-Sensing; D011956:Receptors, Cell Surface; D002118:Calcium