Cinacalcet as an Alternative to Phosphate Therapy in X-linked Hypophosphataemic Rickets

X-linked hypophosphataemic rickets (XLH), caused by mutations in the PHEX gene, has traditionally been treated with a combination of high doses of oral phosphate and active vitamin D metabolites with the goal of normalizing serum phosphate concentration to a degree sufficient to heal the rickets while avoiding iatrogenic complications. Although XLH is caused by elevated serum levels of fibroblast growth factor 23 (FGF23), parathyroid hormone (PTH) still plays a role through its independent effect on the tubular threshold for phosphate per glomerular filtration rate (TP/GFR), which influences serum phosphate concentration.

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