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Molecular Defects in the Vitamin D Receptor Associated with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

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Book cover Vitamin D

Part of the book series: Nutrition and Health ((NH))

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Abstract

Hereditary vitamin D-resistant rickets (HVDRR), also known as vitamin D-dependent rickets type II, is a rare genetic disease caused by end-organ resistance to vitamin D. The active form of vitamin D, 1,25-dihydroxyvitamin D3 [1,25(OH)2D3], elicits hormonal action through the vitamin D receptor (VDR), a member of the steroid-thyroid-retinoid family of nuclear transcription factors. In target cells the activated 1,25(OH)2D3-VDR complex regulates the expression of specific genes that give rise to the biologic response of the hormone. In HVDRR, target organ resistance to vitamin D has been shown to be caused by a heterogeneous group of defects in the VDR resulting from a variety of mutations in the VDR gene that cause the receptor to be nonfunctional or that decrease the activity of the receptor. In this chapter, we describe the clinical syndrome and the molecular defects in the VDR that give rise to HVDRR.

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Authors
  1. Peter J. Malloy
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  2. David Feldman
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Editors and Affiliations

  1. Boston University Medical Center, Boston, MA, USA

    Michael F. Holick PhD, MD

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Malloy, P.J., Feldman, D. (1999). Molecular Defects in the Vitamin D Receptor Associated with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets. In: Holick, M.F. (eds) Vitamin D. Nutrition and Health. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-4757-2861-3_19

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  • DOI: https://doi.org/10.1007/978-1-4757-2861-3_19

  • Publisher Name: Humana Press, Totowa, NJ

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