Adult-Onset Vitamin-D-Resistant Hypophosphatemic Osteomalacia

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Abstract
A 27-year-old man with disabling adult-onset hypophosphatemic osteomalacia was studied in 1947. Because of the failure of large doses of vitamin D, with oral calcium and phosphate supplements, to induce calcium retention on prolonged metabolic balance studies, total parathyroidectomy was performed. Bone healing ensued and subsequently tetany has been easily controlled with modest doses of vitamin D. On restudy in 1968 (after vitamin D had been discontinued) both serum phosphate and renal phosphate clearance were in the range expected in hypoparathyroidism. Intravenous administration of parathyroid hormone reproduced the high phosphate clearance that had been present before parathyroidectomy. The data indicate a causal or permissive role of parathyroid hormone in the renal phosphate leak, hypophosphatemia and osteomalacia in this patient.