Hereditary hypophosphatemic rickets with hypercalciuria: report of a new kindred.
We report a new kindred of hereditary hypophosphatemic rickets with hypercalciuria. The symptomatic child and several relatives had increased renal phosphate clearance leading to hypophosphatemia, hyperabsorptive hypercalciuria, low PTH and increased 1,25-(OH)2D serum level. However, association with vitamin D deficiency and normal urinary excretion of cyclic AMP might suggest another tubular defect in phosphate transport.
Sermet-Gaudelus
I
I
Pediatric Department, Hôpital Necker-Enfants Malades, Paris, France. sermet-gaudelus@necker.fr
Garabédian
M
M
Dechaux
M
M
Lenoir
G
G
Rey
J
J
Tieder
M
M
D002118:Calcium / Q000652:urine*; D002352:Carrier Proteins / Q000378:metabolism; D002648:Child; D000242:Cyclic AMP / Q000652:urine; D005192:Family Health; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000235:genetics* / Q000652:urine*; D010281:Parathyroid Hormone / Q000097:blood; D028044:Phosphate-Binding Proteins; D010710:Phosphates / Q000652:urine
D002352:Carrier Proteins; D010281:Parathyroid Hormone; D028044:Phosphate-Binding Proteins; D010710:Phosphates; D000242:Cyclic AMP; D002118:Calcium