title: [Medical and surgical therapy of familial hypophosphatemic vitamin D resistant rickets with ambulation disorders].
abstract: Three children with familial hypophosphatemic rickets showed, in the untreated state, active rickets of the metaphyseal areas of long bones. All were treated with combined phosphate /1-2 g daily by mouth in 4-5 divided doses) and vitamin D2 therapy for 2-5 years. The radiological appearance of the metaphyses became practically normal in two, whereas little change took place in the endosteal bone surface. Bone biopsies demonstrated osteomalacia. Therefore, two subjects were given phospate (1-2 g daily) and 1-alpha-hydroxyvitamin D (0.25-0.50 microgram daily) for 2 years; then phosphate (1 g daily) and 1.25 dihydroxyvitamin D (0.25-0.50 microgram daily) combined therapy for 5 years; the third patient had phosphate (1 g daily) and 1.25 dihydroxyvitamin D (0.25 microgram daily) combined therapy for 2 years. After therapy with low doses of 1.25 dihydroxyvitamin D, X-rays showed a nearly normal bone aspect, without nephrocalcinosis in all patients. All subjects were submitted to osteothomies with positive results.
authors.affiliation: Cattedra di Pediatria, della Facoltà di Medicina e Chirurgia, Istituto G. Gaslini, Università degli Studi, Genova.
authors.forename: A
authors.initials: A
authors.lastname: Berio
authors.forename: G
authors.initials: G
authors.lastname: Pinelli
mesh_terms: D000293:Adolescent; D000328:Adult; D004351:Drug Resistance; D005260:Female; D006801:Humans; D017674:Hypophosphatemia / Q000188:drug therapy / Q000235:genetics*; D009069:Movement Disorders / Q000209:etiology*; D010710:Phosphates / Q000627:therapeutic use; D012279:Rickets / Q000188:drug therapy / Q000235:genetics / Q000601:surgery; D014807:Vitamin D / Q000627:therapeutic use*
chemical_list: D010710:Phosphates; D014807:Vitamin D