Advertisement

European Journal of Pediatrics

, Volume 137, Issue 3, pp 307–311 | Cite as

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

  • T. Kudoh
  • T. Kumagai
  • N. Uetsuji
  • S. Tsugawa
  • K. Oyanagi
  • Y. Chiba
  • R. Minami
  • T. Nakao
Case Reports

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.

Key words

Vitamin D dependent rickets 1α-hydroxyvitamin D3 Hypocalcemia Osteomalacia 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Belsey RE, DeLuca HF, Potts JT (1974) A rapid assay for 25-OH-vitamin D3 without preparative chromatography. J Clin Endocrinol Metab 38:1046–1051Google Scholar
  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 298:996–999Google Scholar
  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 176:235–243Google Scholar
  4. Harrison HE, Harrison HC (1975) Rickets then and now. J Pediatr 87:1144–1151 (1975)Google Scholar
  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 47:1303–1310Google Scholar
  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 16:452–468Google Scholar
  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 1537–1562Google Scholar
  8. Rosen JF, Fleischman AR, Finberg L, Hamstra ABS, DeLuca HF (1979) Rickets with alopecia: An inborn error of vitamin D metabolism. J. Pediatr 94:729–735Google Scholar
  9. Sovik O, Aksnes L, Apold J (1976) Urinary cyclic AMP: High concentrations in vitamin D-deficient and-dependent rickets. J Pediatr 89:946–949Google Scholar
  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 37:220–229Google Scholar

Copyright information

© Springer-Verlag 1981

Authors and Affiliations

  • T. Kudoh
    • 1
  • T. Kumagai
    • 1
  • N. Uetsuji
    • 1
  • S. Tsugawa
    • 2
  • K. Oyanagi
    • 1
  • Y. Chiba
    • 1
  • R. Minami
    • 1
  • T. Nakao
    • 1
  1. 1.Department of PediatricsSapporo Medical CollegeSapporoJapan
  2. 2.Otaru National SanatoriumOtaruJapan

Personalised recommendations