The Molecular Basis for Resistance to 1,25-Dihydroxyvitamin D: Studies in Cells Cultured from Patients with Hereditary Hypocalcemic 1,25(OH)2D3-Resistant Rickets

  • Charles Eil
  • Uri A. Liberman
  • Stephen J. Marx
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 196)


Vitamin D-dependent rickets, type II, is a rare, hereditary syndrome characterized by early onset rickets, hypocalcemia, secondary hyperparathyroidism, normal vitamin D intake, and normal or elevated circulating levels of 1,25-dihydroxyvitamin D (1,25(OH)2D). It is thought to result from target tissue resistance to the action of 1,25(OH)2D in a manner analogous to the resistance to androgens and glucocorticoids seen in patients with decreased hormone action in the face of elevated blood levels of those hormones.1,2 We will refer to this form of rickets as hereditary, hypocalcemic 1,25(OH)2D3-resistant rickets (HHDR).


Androgen Receptor Skin Fibroblast Hormone Binding Soluble Extract Culture Skin Fibroblast 


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Copyright information

© Plenum Press, New York 1986

Authors and Affiliations

  • Charles Eil
    • 1
  • Uri A. Liberman
    • 2
    • 3
  • Stephen J. Marx
  1. 1.Endocrinology Branch, Naval Hospital and Uniformed ServicesUniversity of the Health SciencesBethesdaUSA
  2. 2.Beilinson Medical CenterTel AvivIsrael
  3. 3.Metabolic Diseases BranchNIADDK, NIHBethesdaUSA

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