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There have been several reports that document abnormal vitamin D metabolism in X-linked hypophosphatemic rickets (XLH). Those reports indicate a blunted renal 25-hydroxyvitamin D-1 alpha-hydroxylase response to a potent stimulator, phosphorus restriction. We examined here its response to phosphate supplementation. Seven normal volunteers and 12 patients with XLH were submitted to single oral phosphate loading. This treatment produced a marked elevation of the serum phosphorus level, with a mild reduction in the serum calcium level. In normal subjects, although the concentrations of intact parathyroid hormone and mid-region parathyroid hormone were increased, with two peaks at 2 and 8 h after treatment, there were no significant changes in vitamin D metabolites including 25-hydroxyvitamin D (25(OH)D), 24,25-dihydroxyvitamin D (24,25(OH)2D) and 1,25-dihydroxyvitamin D (1,25(OH)2D). On the other hand, in the patients with XLH, the serum 1,25(OH)2D level increased from 23.4 +/- 12.0 (mean +/- SD) pg/ml to 44.3 +/- 33.6 pg/ml 6 h after ingestion without any significant change in 25(OH)D or 24,25(OH)2D.
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