[Comment] Hope for patients with X-linked hypophosphataemia?

The discovery in 2000 of mutations in the fibroblast growth factor 23 gene (FGF23) as the cause of autosomal dominant hypophosphataemic rickets played a major role in elucidating the pathogenesis of various forms of hypophosphataemic rickets.1 It became clear that the causes of hypophosphataemic rickets could be classified into FGF23-dependent or FGF23-independent categories, each with its own characteristic biochemical changes.2 FGF23-dependent hypophosphataemic rickets are associated with elevated FGF23, inappropriately normal or reduced 1,25-dihydroxyvitamin D (1,25[OH]2D), and high normal or marginally elevated parathyroid hormone concentrations, in stark contrast to reduced FGF23, elevated 1,25(OH)2D, and normal or suppressed parathyroid hormone concentrations in FGF23-independent forms of the disease.

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