Respiratory failure and multiple fractures in vitamin D-dependent rickets.
A 20-month-old boy presented with multiple fractures and respiratory failure. He was found to have vitamin D-dependent rickets. The rickets did not improve with phosphate, calcium and calciferol. The rickets healed, however, with large doses of 1-alpha-hydroxycholecalciferol. The presentation is unusual and the response to therapy suggests metabolic heterogeneity in vitamin D-dependent rickets.
D001862:Bone Resorption / Q000000981:diagnostic imaging; D050723:Fractures, Bone / Q000000981:diagnostic imaging / Q000209:etiology*; D006801:Humans; D006887:Hydroxycholecalciferols / Q000627:therapeutic use; D007223:Infant; D008168:Lung / Q000000981:diagnostic imaging; D008297:Male; D011859:Radiography; D012131:Respiratory Insufficiency / Q000209:etiology*; D012279:Rickets / Q000150:complications* / Q000188:drug therapy; D013131:Spine / Q000000981:diagnostic imaging
D006887:Hydroxycholecalciferols; C008088:alfacalcidol