Calcified Tissue International

, Volume 33, Issue 1, pp 173–175 | Cite as

Serum 1,25-dihydroxyvitamin D concentration in hypophosphatemic vitamin D-resistant rickets

  • Edgard E. Delvin
  • Francis H. Glorieux
Rapid Communication

Summary

Fasting serum 1α,25-dihydroxyvitamin D (1,25-(OH)2D) levels were measured in 3 groups of hypophosphatemic vitamin D-resistant rickets (VDRR) patients: those untreated; those treated with vitamin D and phosphate; and those treated with 1,25-(OH)2D3 and phosphate. In the untreated patients, the mean 1,25-(OH)2D level was higher than in our age-matched control group. Except for one at 66 pg/ml, individual values were however within normal limits. Long term vitamin D2 therapy was accompanied by a slight but significant decrease in 1,25-(OH)2D concentrations; nonetheless the levels remained within the normal range. In the third group of patients, the concentration of 1,25-(OH)2D rose to supranormal levels when sampling was done 1–3 hours after administration of the hormone, decreasing rapidly to levels below that of normal subjects when the specimens were collected 12–24 hours later. Our data show that an alteration of the vitamin D activation pathway is unlikely to be part of the pathogenic mechanism underlying the VDRR condition.

Calcitriol (1α,25-(OH)2D3) as RocaltrolR in capsules of 0.25 and 0.50 µg was kindly supplied by Dr. Patrick Le Morvan (Hoffmann-La Roche Ltd, Vaudreuil, Que., Canada).

Key words

Vitamin D-resistant rickets hypophosphatemia 1,25-dihydroxyvitamin D 1,25-(OH)2calcitriol 

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References

  1. 1.
    Glorieux, F.H., Scriver, C.R.: Loss of a PTH sensitive component of phosphate transport in X-linked hypophosphatemia, Science175:997–1000, 1972PubMedGoogle Scholar
  2. 2.
    Chan, J.C.M., Bartter, F.C.: Hypophosphatemic rickets: Effects of 1α,25-dihydroxyvitamin D on growth and mineral metabolism, Pediatr.64:488–495, 1979Google Scholar
  3. 3.
    Scriver, C.R., Reade, T.M., DeLuca, H.F., Hamstra, A.J.: Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease, N. Engl. J. Med.299:976–979, 1978PubMedCrossRefGoogle Scholar
  4. 4.
    Haussler, M., Hughes, M., Baylink, D., Littledike, E.T., Cork, D., Pitt, M.: Influence of phosphate depletion on the biosynthesis and circulating level of 1α,25-dihydroxyvitamin D, Adv. Expt. Med. Biol.81:233–250Google Scholar
  5. 5.
    Arnaud, C.D., Glorieux, F.H., Scriver, C.R.: Serum parathyroid hormone in X-linked hypophosphatemia, Science173:845–847, 1971PubMedGoogle Scholar
  6. 6.
    Glorieux, F.H., Scriver, C.R., Reade, T.M., Goldman, H., Roseborough, A.: Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia, N. Engl. J. Med.287:481–487, 1972PubMedCrossRefGoogle Scholar
  7. 7.
    Haddad, J.G., Chyu, K.J.: Competitive binding radioassay for 25-hydroxycholecalciferol. J. Clin. Endocr.33:992–995, 1971PubMedGoogle Scholar
  8. 8.
    Eisman, J.H., Hamstra, A.J., Kream, B.E., DelUca, H.F.: A sensitive, precise and convenient method for determination of 1,25-dihydroxyvitamin D in human plasma, Arch. Biochem. Biophys.176:235–243, 1976CrossRefPubMedGoogle Scholar
  9. 9.
    Tanaka, Y., DeLuca, H.F.: The control of 25-hydroxyvitamin D metabolism by inorganic phosphorus, Arch. Biochem. Biophys.154:566–574Google Scholar
  10. 10.
    Eicher, E.M., Southard, J.L., Scriver, C.R., Glorieux, F.H.: Hypophosphatemia: Mouse model for human familial hypophosphatemic vitamin D-resistant rickets, Proc. Natl Acad. Sci. USA73:4667–4671, 1976PubMedGoogle Scholar
  11. 11.
    Lund, B., Sørensen, O.H., Lund, B., Bishop, J.E., Norman, A.W.: Stimulation of 1,25-dihydroxyvitamin D production by parathyroid hormone and hypocalcemia in man, J. Clin. Endocr. Metab.50:480–484, 1980PubMedCrossRefGoogle Scholar
  12. 12.
    Trechsel, U., Eisman, J.A., Fischer, J.A., Bonjour, J.-P., Fleisch, H.: Calcium-dependent, parathyroid hormone-independent regulation of 1,25-dihydroxyvitamin D, Am. J. Physiol.2:119E-124E, 1980Google Scholar
  13. 13.
    Chesney, R.W., Mazess, R.B., Rose, P., Hamstra, A.J., DeLuca, H.F.: Supranormal 25-hydroxyvitamin D and subnormal 1,25-dihydroxyvitamin D: their role in X-linked hypophosphatemic rickets, Am. J. Dis. Child.134:140–143Google Scholar
  14. 14.
    Bell, N.H., Epstein, S., Stern, P.H.: Hypercalcemia during long term treatment with 1,25-dihydroxyvitamin D3 in hypoparathyroidism, N. Engl J. Med.301:1183–1184, 1979PubMedCrossRefGoogle Scholar
  15. 15.
    Glorieux, F.H., Bordier, P.J., Marie, P., Travers, P., Delvin, E.E., Pettifor, J.M.: The response of bone to oral phosphate salts, ergocalciferol and/or 1α,25-dihydroxycholecalciferol in familial hypophosphatemia. In A.W. Norman, K. Schaefer, D. von Herrath (eds). Vitamin D: Basic Research and its Clinical Application, pp. 1163–1165. Walter de Gruyter, Berlin, 1979Google Scholar

Copyright information

© Springer-Verlag 1981

Authors and Affiliations

  • Edgard E. Delvin
    • 1
    • 2
  • Francis H. Glorieux
    • 1
    • 2
  1. 1.Genetics UnitShriners Hospital for Crippled ChildrenMontréalCanada
  2. 2.Department of Experimental Surgery and PediatricsMcGill UniversityMontréal

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