Patients with X-linked hypophosphatemic rickets (XLH) have normal or low calcitriol concentrations despite manifesting hypophosphatemia, a known stimulus of 25-hydroxyvitamin D-1 α-hydroxylase activity. In accord, administration of pharmacological doses of PTH results in a markedly blunted stimulation of calcitriol levels. In the murine homolog of the human disorder, the Hyp mouse, regulation of 25-hydroxyvitamin D-1 α-hydroxylase activity is defective in response to hypophosphatemia and PTH administration, but not in response to calcitonin administration. In the current study we administered calcitonin to controls and patients with XLH to test the hypothesis that calcitonin-stimulatable 25-hydroxyvitamin D-1 α-hydroxylase activity is normal in patients with XLH. We found that calcitriol concentrations increased in both groups to a similar degree (78.5 ± 20.9 pmol/L in patients and 49.9 ± 19.7 pmol/L in controls) and with a similar time course. Our results indicate that the complex and incomplete defect in the regulation of 25-hydroxyvitamin D-1 α-hydroxylase observed in Hyp mice also exists in humans.
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism
- Clinical Biochemistry
- Biochemistry, medical