Clinical Features of Hereditary Resistance to 1,25-Dihydroxyvitamin D (Hereditary Hypocalcemic Vitamin D Resistant Rickets Type II)

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


In 1937 Albright and co-workers described a patient with hypophosphatemic rickets resistant to vitamin D therapy.1 They illustrated for the first time the concept that a state of hormone or vitamin deficiency could be caused by a defect in the tissue response to a factor rather than by reduced concentrations of that factor. In 1961 Prader and associates described a group of children with hypocalcemic rickets unresponsive to physiological doses of vitamin D (calciferol) but responsive to and dependent upon pharmacological doses of the vitamin.2 The terms pseudo-vitamin D deficiency or vitamin D dependency have been used interchangeably to describe this disorder.


Hypophosphatemic Rickets Amelogenesis Imperfecta Normal Hair Outer Root Sheath Cell Total Alopecia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Plenum Press, New York 1986

Authors and Affiliations

  • Uri A. Liberman
    • 1
    • 2
    • 3
  • Charles Eil
    • 1
    • 2
    • 3
  • Stephen J. Marx
    • 1
    • 2
    • 3
  1. 1.Metabolic Diseases, Beilinson Medical Center, Petah-Tikva and Sackler School of MedicineTel Aviv UniversityTel AvivIsrael
  2. 2.Endocrinology Branch, Naval Hospital, BethesdaUSUHSBethesdaUSA
  3. 3.Mineral Metabolism SectionNIADDKBethesdaUSA

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