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

Stephen J. Marx, Allen M. Spiegel, Edward M. Brown, David G. Gardner, Robert W. Downs, Maurice Attie, Allen J. Hamstra, Hector F. Deluca

Research output: Contribution to journalArticle

98 Scopus citations

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-dihydroxyvitamin 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 D2, produced endogenously, or of 1,25-dihydroxyvitamin D3, administered by mouth. Serum concentrations of 25-hydroxyvitamin D2, 25-hydroxyvitamin D3, 24,25-dihydroxyvitamin D, and 1,25-dihydroxyvitamin D were normal in five first degree relatives. We 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
DOIs
StatePublished - Dec 1978
Externally publishedYes

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Endocrinology
  • Clinical Biochemistry
  • Biochemistry, medical

Fingerprint Dive into the research topics of 'A familial syndrome of decrease in sensitivity to 1,25-dihydroxyvitamin D'. Together they form a unique fingerprint.

  • Cite this

    Marx, S. J., Spiegel, A. M., Brown, E. M., Gardner, D. G., Downs, R. W., Attie, M., Hamstra, A. J., & 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. https://doi.org/10.1210/jcem-47-6-1303