Other Names for this Disease
- Hypophosphatemia, X-linked
- Hypophosphatemia, vitamin D-resistant rickets
- Vitamin D-resistant rickets, X-linked
Hypophosphatemic rickets (previously called vitamin D-resistant rickets) is a disorder in which the bones become painfully soft and bend easily because the blood contains low levels of phosphate and has inadequate amounts of the active form of vitamin D. The condition can be caused by mutations in the phosphate-regulating endopeptidase gene, also known as the PHEX gene and is nearly always inherited. The aim of treatment is to raise phosphate levels in the blood, which will promote normal bone formation. Phosphate can be taken by mouth and should be combined with calcitriol, the activated form of vitamin D.
Last updated: 9/17/2009
- Brazy PC. Hypophosphatemic Rickets. The Merck Manual of Medical Information - 2nd edition. 2006; http://www.merck.com/mmhe/print/sec11/ch146/ch146g.html. Accessed 1/3/2012.
- Hypophosphatemic Rickets, X-Linked Dominant. Online Mendelian Inheritance in Man (OMIM). 2006; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=307800. Accessed 9/13/2009.
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