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M. KLEEREKOPER, R. COFFEY, T. GRECO, S. NICHOLS, N. COOKE, W. MURPHY, L.V. AVIOLI, Hypercalcemic Hyperparathyroidism in Hypophosphatemic Rickets, The Journal of Clinical Endocrinology & Metabolism, Volume 45, Issue 1, 1 July 1977, Pages 86–94, https://doi.org/10.1210/jcem-45-1-86
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Abstract
A 25-year-old white woman with sporadic hypophosphatemic rickets presented with a 7 year history of chronic mild hypercalcemia, osteitis fibrosa cystica and hypercalcemic nephropathy.Serum immunoreactive parathyroid hormone was elevated by greater than 100-fold and a 3.5 gparathyroid tumor was found at operation. Survey of the literature reveals that of 9 previous cases in which hypercalcemic hyperparathyroidism occurred in as sociation with hypophosphatemic rickets, onlytwo 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.