PEDIATRICS Vol. 84 No. 2 August 1989, pp. 276-280
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Hypercalciuric Hypophosphatemic Rickets, Mineral Balance, Bone Histomorphometry, and Therapeutic Implications of Hypercalciuria

C. Chen MD1, T. Carpenter MD1, N. Steg MD1, R. Baron DDS, PhD1, and C. Anast MD1

1 The Division of Endocrinology, Department of Medicine, The Children's Hospital, and Harvard University School of Medicine, Boston, Massachusetts; the Alfred I. DuPont Institute, Wilmington, Delaware; and the Department of Orthopedic Surgery, Yale University School of Medicine, New Haven, Connecticut

A 14-year-old Turkish boy had severe rickets that had been clinically evident since he was 2 years of age. When he was 5 years of age, he had normal serum calcium and phosphorus levels and increased alkaline phosphatase activity. Treatment with modest dosages of vitamin D (5000 U/d for 3 weeks) resulted in hypercalcemia. At 10 years of age, high-dose vitamin D (40 000 U/d) plus phosphorus (1.1 g/d) therapy for 20 days resulted in symptomatic nephrolithiasis. When, 14 years of age, he had normocalcemia, hypophosphatemia, increased alkaline phosphatase activity, and normal circulating parathyroid hormone concentration. Levels of 25-hydroxyvitamin D were normal but those of 1,25-dihydroxyvitamin D were markedly increased. Rickets and osteopenia were evident on radiographs, and osteomalacia was present on trabecular bone obtained at biopsy. Balance study results showed increased intestinal absorption of calcium and phosphorus, hypercalciuria, and increased urinary phosphorus excretion. This patient manifests an unusual form of hypophosphatemic rickets in which hypercalciuria is a cardinal feature. In contrast with most varieties of hypophosphatemia, this disorder is characterized by appropriately increased production of 1,25-dihydroxyvitamin D in response to hypophosphatemia. It is recommended that urinary calcium excretion be assessed in all patients with hypophosphatemic rickets so that appropriate therapy will be instituted.

Key Words: vitamin D • hypophosphatemia • hypercalciuria • rickets

Submitted on March 7, 1988
Accepted on June 3, 1988




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