Vitamin-D-Dependent Rickets Type II: Resistance of Target Organs to 1,25-Dihydroxyvitamin D

Marion H. Brooks, Norman H. Bell, Leon Love, Paula H. Stern, Emilio Orfei, Sherry F. Queener, Alan J. Hamstra, Hector F. Deluca

Research output: Contribution to journalArticle

219 Scopus citations

Abstract

Studies were done to determine the cause for hypocalcemia, secondary hyperparathyroidism, osteomalacia and osteitis fibrosa cystica in a 22-year-old black woman. The patient had normal serum 25-hydroxyvitamin D (14 ng per milliliter) and markedly elevated serum 1,25-dihydroxyvitamin D (137 pg per milliliter). Vitamin D3, 4000 units per day for four weeks, increased the serum 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D to as high as 29 and 297 pg per milliliter, respectively, and corrected the hypocalcemia and secondary hyperparathyroidism. The results suggest that the disorder results from impaired end-organ response to 1,25-dihydroxyvitamin D. We propose that the entity be called vitamin-D-dependent rickets Type II.

Original languageEnglish (US)
Pages (from-to)996-999
Number of pages4
JournalNew England Journal of Medicine
Volume298
Issue number18
DOIs
StatePublished - May 4 1978
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)

Fingerprint Dive into the research topics of 'Vitamin-D-Dependent Rickets Type II: Resistance of Target Organs to 1,25-Dihydroxyvitamin D'. Together they form a unique fingerprint.

  • Cite this

    Brooks, M. H., Bell, N. H., Love, L., Stern, P. H., Orfei, E., Queener, S. F., Hamstra, A. J., & Deluca, H. F. (1978). Vitamin-D-Dependent Rickets Type II: Resistance of Target Organs to 1,25-Dihydroxyvitamin D. New England Journal of Medicine, 298(18), 996-999. https://doi.org/10.1056/NEJM197805042981804