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Diseases

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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

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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

References
  1. Karl S Roth, James CM Chan. Hypophosphatemic Rickets: Treatment & Medication. eMedicine. February 6, 2009; http://emedicine.medscape.com/article/922305-treatment. Accessed 1/3/2012.
  2. 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.


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Hypophosphatemic rickets. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link and enter the disease name in the "Terms Search" box. Then click "Submit Query".
Other Names for this Disease
  • HYP
  • Hypophosphatemia, X-linked
  • Hypophosphatemia, vitamin D-resistant rickets
  • Vitamin D-resistant rickets, X-linked
  • XLH
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.