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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
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Your Question

I was born with hypophosphatemic rickets. As a child I was given buffered sodium phosphate, which helped to stop my calcium levels becoming too high. This has been stopped for some time now. I am now an adult and am taking Calcitrol, but my calcium levels are still high. How are high calcium levels in adults with hypophosphatemic rickets treated?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How are adults with hypophosphatemic rickets treated?

The goal of treatment of adults with hypophosphatemic rickets is to manage bone pain and in some cases aid in the healing of bone fracture. Adults with hypoposphatemic rickets that are not experiencing symptoms may not benefit from therapy, but could experience therapy related complication (e.g., nephrocalcinosis and hyperparathyroidism). Treatment for symptomatic adults involves daily divided doses of Calcitriol and phosphate. Adults with hypophospatemic rickets undergoing treatment should carefully follow their prescribed dosing schedule. All adults with hypophosphatemic rickts should be regularly monitored for serum phosphorus, calcium, creatinine, and PTH.[1]
Last updated: 9/21/2012

How are high calcium levels in adults with hypophosphatemic rickets treated?

High levels of calcium in adults with hypophosphatemic rickets may be due to an excessive calcitriol dose or inadequate dosing of phosphate.[1] Treatment of high calcium levels in adults may involve adjusting calcitrol or phosphate dosing levels/schedule.[1] We strongly encourage you to talk with your healthcare provider regarding your high calcium levels and treatment options.
Last updated: 9/21/2012

References
  • Scheinman S, Agus Z, Drezner M. Hereditary hypophosphatemic rickets and tumor-induced osteomalacia. In: Basow, DS . UpToDate. Waltham, MA: UpToDate; 2012;