How is familial hypophosphatemia treated?

Updated: Jun 19, 2020
  • Author: Horacio B Plotkin, MD, FAAP; Chief Editor: Jatinder Bhatia, MBBS, FAAP  more...
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Answer

Answer

Treatment

Optimal therapy consists of oral phosphate to provide 1-3g of elemental phosphate per day in 5 divided doses plus oral calcitriol (0.5-1.5mcg/day). Calcitriol (Rocaltrol) prevents increases in parathyroid hormone caused by phosphate therapy. The phosphate mixture contains mineral salts of phosphoric acid. Raising the concentration of plasma phosphate facilitates calcification of osteoid. Of note, phosphate half-life in serum is short, which usually causes low phosphate levels in fasting serum samples, despite proper therapy. Efficacy is reflected by proper linear growth.

Minor changes in calcitriol dose may produce hypercalcemia and renal damage. The calcium-creatinine (mg/mg) ratio in urine must be closely monitored at first and then every 3-6 months.

An elevated phosphate intake may produce secondary hyperparathyroidism. Therefore, only experienced practitioners should treat these patients.


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