title: Hereditary hypophosphatemic rickets with hypercalciuria: report of a new kindred.
abstract: 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.
authors.affiliation: Pediatric Department, Hôpital Necker-Enfants Malades, Paris, France. sermet-gaudelus@necker.fr
authors.forename: I
authors.initials: I
authors.lastname: Sermet-Gaudelus
authors.forename: M
authors.initials: M
authors.lastname: Garabédian
authors.forename: M
authors.initials: M
authors.lastname: Dechaux
authors.forename: G
authors.initials: G
authors.lastname: Lenoir
authors.forename: J
authors.initials: J
authors.lastname: Rey
authors.forename: M
authors.initials: M
authors.lastname: Tieder
mesh_terms: 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
chemical_list: D002352:Carrier Proteins; D010281:Parathyroid Hormone; D028044:Phosphate-Binding Proteins; D010710:Phosphates; D000242:Cyclic AMP; D002118:Calcium