Abstract:X-linked hypophosphatemia, due to PHEX mutations results in elevated fibroblast growth factor 23, hypophosphatemia and rickets/osteomalacia. Conventional therapy requires high doses of phosphate salts combined with active vitamin D analogues. Known complications of this regimen include nephrocalcinosis and secondary and tertiary hyperparathyroidism. The prevalence of hyperparathyroidism and treatment with parathyroidectomy in XLH is uncertain. The goal of this study was to estimate the prevalence of hyperparat… Show more
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