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Journal of Clinical Endocrinology & Metabolism, Vol 47, 1303-1310, Copyright © 1978 by Endocrine Society

ARTICLES

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

SJ Marx, AM Spiegel, EM Brown, DG Gardner, RW Downs Jr, M Attie, AJ Hamstra and HF DeLuca

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 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.


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