A familial syndrome of decrease in sensitivity to 1,25-dihydroxyvitamin D

S. J. Marx, Allen M. Spiegel, E. M. Brown, D. G. Gardner, R. W. Downs, M. Attie, A. J. Hamstra, H. F. DeLuca

Research output: Contribution to journalArticle

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Abstract

Typical features of hereditary vitamin D-dependent (pseudovitamin D-deficient) rickets were observed beginning at ages 20 and 5 months in a brother and sister. Both had calcium malabsorption correctable with high doses of 25-hydroxyvitamin D. During periods of hypocalcemia they both manifested secondary hyperparathyroidism with hypophosphatemia and high serum concentrations of endogenously produced 1,25-dihydrovitamin D. In each, normalization of serum calcium concentration and resolution of osteomalacia were obtained with continuous administration of high doses of ergocalciferol or high doses of 1,25-dihydroxycholecalciferol. Chemical features of vitamin D deficiency were corrected in the presence of high circulating concentrations of 1,25-dihydroxyvitamin D 2, produced endogenously, or of 1,25-dihyroxyvitamin D 3, administered by mouth. Serum concentrations of 25-hydroxyvitamin D, and 1,25-dehydroxyvitamin D were normal in five first relatives. The authors conclude that in these siblings, rickets and osteomalacia resulted from a hereditary decreased sensitivity to 1,25-dihydroxyvitamin D at the intestine and perhaps other vitamin D target tissues.

Original languageEnglish (US)
Pages (from-to)1303-1310
Number of pages8
JournalJournal of Clinical Endocrinology and Metabolism
Volume47
Issue number6
StatePublished - 1978
Externally publishedYes

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Vitamin D
Osteomalacia
Rickets
Serum
Calcium
Hypophosphatemia
Ergocalciferols
Secondary Hyperparathyroidism
Vitamin D Deficiency
Hypocalcemia
Calcitriol
Intestines
Mouth
Tissue
1,25-dihydroxyvitamin D
25-hydroxyvitamin D

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology, Diabetes and Metabolism

Cite this

Marx, S. J., Spiegel, A. M., Brown, E. M., Gardner, D. G., Downs, R. W., Attie, M., ... DeLuca, H. F. (1978). A familial syndrome of decrease in sensitivity to 1,25-dihydroxyvitamin D. Journal of Clinical Endocrinology and Metabolism, 47(6), 1303-1310.

A familial syndrome of decrease in sensitivity to 1,25-dihydroxyvitamin D. / Marx, S. J.; Spiegel, Allen M.; Brown, E. M.; Gardner, D. G.; Downs, R. W.; Attie, M.; Hamstra, A. J.; DeLuca, H. F.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 47, No. 6, 1978, p. 1303-1310.

Research output: Contribution to journalArticle

Marx, SJ, Spiegel, AM, Brown, EM, Gardner, DG, Downs, RW, Attie, M, Hamstra, AJ & DeLuca, HF 1978, 'A familial syndrome of decrease in sensitivity to 1,25-dihydroxyvitamin D', Journal of Clinical Endocrinology and Metabolism, vol. 47, no. 6, pp. 1303-1310.
Marx, S. J. ; Spiegel, Allen M. ; Brown, E. M. ; Gardner, D. G. ; Downs, R. W. ; Attie, M. ; Hamstra, A. J. ; DeLuca, H. F. / A familial syndrome of decrease in sensitivity to 1,25-dihydroxyvitamin D. In: Journal of Clinical Endocrinology and Metabolism. 1978 ; Vol. 47, No. 6. pp. 1303-1310.
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