Advertisement

Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Vitamin D dependent rickets: Decreased sensitivity to 1,25-dihydroxyvitamin D

Abstract

A patient with vitamin D dependent rickets with decreased sensitivity to 1,25-Dihydroxyvitamin D was observed. She suffered from bone pain of two years duration beginning at 12 years of age and was found to be suffering from hypocalcemia, secondary hyperparathyroidism and osteomalacia. Laboratory findings revealed normal serum 25-hydroxyvitamin D (27 ng/ml) and markedly elevated serum 1,25-dihydroxyvitamin D (131.9 pg/ml). The hypocalcemia was refractory in spite of administration of 25,000 units of vitamin D2, but therapy with high doses of oral 1α-hydroxyvitamin D3 resulted in significant elevation of the serum calcium level. The clinical findings and course of the patient's disease were quite different from those of other patients with vitamin D dependent rickets reported by other authors.

This is a preview of subscription content, log in to check access.

References

  1. Belsey RE, DeLuca HF, Potts JT (1974) A rapid assay for 25-OH-vitamin D3 without preparative chromatography. J Clin Endocrinol Metab 38:1046–1051

  2. Brooks MH, Bell NH, Love L, Stern PH, Orfel E, Queener SF, Hamstra AJ, DeLuca HF (1978) Vitamin D dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D. N Engl J Med 298:996–999

  3. Eisman JA, Hamstra AJ, Kream BE, DeLuca HF (1976) A sensitive, precise, and convenient method for determination of 1,25-dihydroxyvitamin D in human plasma. Arch Biochem Biophys 176:235–243

  4. Harrison HE, Harrison HC (1975) Rickets then and now. J Pediatr 87:1144–1151 (1975)

  5. Marx SJ, Spiegel AM, Brown EM, Gardner DG, Downs RW Jr, Attie M, Hamstra AJ, Deluca HF (1978) A familial syndrome of decrease in sensitivity to 1,25-dihydroxyvitamin D. J Clin Endocrinol Metab 47:1303–1310

  6. Prader A, Illig R, Heierli E (1961) Eine besondere Form der primären vitamin-D-resistenten Rachitis mit Hypocalcämie und autosomal-dominantem Erbgang: die heriditäre Pseudo-Mangelrachitis. Helv Pediat Acta 16:452–468

  7. Rasmussen H, Anast C (1978) Familial hypophosphatemic (Vitamin D-resistant) rickets and vitamin D-dependent reckets. In: Stanbury JB, Wyngaarden JB, Fredrickson DS (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, pp 1537–1562

  8. Rosen JF, Fleischman AR, Finberg L, Hamstra ABS, DeLuca HF (1979) Rickets with alopecia: An inborn error of vitamin D metabolism. J. Pediatr 94:729–735

  9. Sovik O, Aksnes L, Apold J (1976) Urinary cyclic AMP: High concentrations in vitamin D-deficient and-dependent rickets. J Pediatr 89:946–949

  10. Strewler GJ, Bernstein DS Pletka P (1973) Pseudo-vitamin D deficiency rickets (PDR) and relative hypoparathyroidism: A report of a family. J Clin Endocrinol Metab 37:220–229

Download references

Author information

Correspondence to T. Kumagai.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Kudoh, T., Kumagai, T., Uetsuji, N. et al. Vitamin D dependent rickets: Decreased sensitivity to 1,25-dihydroxyvitamin D. Eur J Pediatr 137, 307–311 (1981). https://doi.org/10.1007/BF00443263

Download citation

Key words

  • Vitamin D dependent rickets
  • 1α-hydroxyvitamin D3
  • Hypocalcemia
  • Osteomalacia