Hypercalcemic hyperparathyroidism in hypophosphatemic rickets.
A 25-year-old white woman with sporadic hypophosphatemic rickets presented with a 7 year history of chronic mild hypercalcemia, osteitis fibrosa cystic and hypercalcemic nephropathy. Serum immunoreactive parathyroid hormone was elevated by greater than 100-fold and a 3.5 g parathyroid tumor was found at operation. Survey of the literature reveals that of 9 previous cases in which hypercalcemic hyperparathyroidism occurred in association with hypophosphatemic rickets, only two had classical x-linked familial hypophosphatemic rickets. It appears more than likely that this unusual combination of skeletal diseases represents the chance occurrence of primary hyperparathyroidism in patients with underlying x-linked familial hypophosphatemic rickets rather than a complication of phosphate therapy.
D000293:Adolescent; D000328:Adult; D001862:Bone Resorption; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D006934:Hypercalcemia / Q000150:complications* / Q000000981:diagnostic imaging / Q000601:surgery; D006961:Hyperparathyroidism / Q000150:complications* / Q000000981:diagnostic imaging / Q000601:surgery; D010280:Parathyroid Glands / Q000601:surgery; D010282:Parathyroid Neoplasms / Q000150:complications / Q000601:surgery; D011859:Radiography; D012279:Rickets / Q000150:complications* / Q000000981:diagnostic imaging / Q000601:surgery