How is hypophosphatemic rickets treated?

Updated: May 18, 2020
  • Author: James CM Chan, MD; Chief Editor: Sasigarn A Bowden, MD  more...
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In April 2018, burosumab (Crysvita), a monoclonal immunoglobulin G1 (IgG1) antibody that binds excess fibroblast growth factor 23 (FGF23), became the first drug approved by the US Food and Drug Administration (FDA) for XLH. Clinical trials showed that the drug normalized phosphorus levels, improved bone mineralization, improved rickets in children, and helped to heal fractures in adults. [8, 9, 10]

The usual vitamin D preparations are not useful for treatment in hypophosphatemic rickets because they lack significant 1-alpha-hydroxylase activity. Original treatment protocols advocated vitamin D at levels of 25,000-50,000 U/d (at the lower limit of toxic dosage), which placed the patient in jeopardy of frequent hypercalcemic episodes. Calcitriol is now more widely available and substantially diminishes, but does not eliminate, this risk. Amiloride and hydrochlorothiazide are administered to enhance calcium reabsorption and to reduce the risk of nephrocalcinosis. [11]

Osteotomy to realign extremely distorted leg curvatures may be necessary for children whose diagnosis was delayed or whose initial treatment was inadequate. Skull deformity may require treatment for synostosis. [12]  Spontaneous abscesses often require periodic dental procedures.

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