title: Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease.
abstract: The serum concentration of 1,25-dihydroxylvitamin D (1,25-[OH]2D) in normal children and in children with inherited diseases of bone was compared by use of a competitive binding assay. Observed values were: in 12 normal children and adolescents, 37.1 +/- 1.9 pg per milliliter (mean +/- S.D.); in 14 patients with X-linked hypophosphatemic rickets treated with vitamin D2 and phosphate supplements, 15.6 +/- 7.8 (P less than 0.01 versus control); in six patients with autosomal recessive vitamin D dependency treated with vitamin D2, 9.5 +/- 2.9 (P less than 0.01 versus control); and in four untreated patients with autosomal dominant hypophosphatemic (non-rachitic) bone disease, 30.2 +/- 6.3 (not significantly different from the controls). The difference in bone disease between X-linked hypophosphatemia (severe) and hypophosphatemic bone disease (mild) at comparable low serum levels of phosphate implies that 1,25-(OH)2D and phosphate may have independent roles in the pathogenesis of defective bone mineralization.
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D001667:Binding, Competitive; D001847:Bone Diseases / Q000097:blood* / Q000209:etiology / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004100:Dihydroxycholecalciferols / Q000097:blood*; D004872:Ergocalciferols / Q000627:therapeutic use; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D006887:Hydroxycholecalciferols / Q000097:blood*; D007015:Hypophosphatemia, Familial / Q000097:blood* / Q000150:complications; D008297:Male; D010710:Phosphates / Q000627:therapeutic use; D012279:Rickets / Q000097:blood* / Q000188:drug therapy / Q000235:genetics; D014960:X Chromosome
chemical_list: D004100:Dihydroxycholecalciferols; D004872:Ergocalciferols; D006887:Hydroxycholecalciferols; D010710:Phosphates