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Genetic and Rare Diseases Information Center (GARD)

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Hypophosphatemic rickets

Other Names for this Disease
  • HYP
  • Hypophosphatemia, X-linked
  • Hypophosphatemia, vitamin D-resistant rickets
  • Vitamin D-resistant rickets, X-linked
  • XLH
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How might hypophosphatemic rickets be treated?

The aim of treatment for hypophosphatemic rickets is to raise phosphate levels in the blood, which promotes normal bone growth. Phosphate is typically combined with calcitriol, the activated form of vitamin D. Calcitriol increases calcium levels by promoting calcium absorption in the intestines, and calcium retention in kidneys.[1] The amounts of phosphate and calcitriol are usually adjusted carefully, because this treatment can lead to high levels of calcium in the blood, the accumulation of calcium in kidney tissue, or kidney stones. These effects can harm the kidneys and other tissues.[2] Other treatment options may include growth hormone and anticalciurics to promote healthy bone growth and lessen mineral loss. Osteotomy (a type of bone surgery) to fix leg curvatures may be necessary for children whose diagnosis was delayed, or whose initial treatment was not adequate. Skull abnormalities may require treatment for synostosis (premature closing of sutures in the brain). Spontaneous abscesses in the mouth may require dental procedures periodically. Apart from the short stature of most affected adults, the prognosis for a normal lifespan and normal health is typically good.[1]
Last updated: 1/4/2012

  1. Karl S Roth, James CM Chan. Hypophosphatemic Rickets: Treatment & Medication. eMedicine. February 6, 2009; Accessed 1/3/2012.
  2. Brazy PC. Hypophosphatemic Rickets. The Merck Manual of Medical Information - 2nd edition. 2006; Accessed 1/3/2012.

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Clinical Trials & Research for this Disease

  • lists trials that are studying or have studied Hypophosphatemic rickets. Click on the link to go to to read descriptions of these studies.
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