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X-linked hypophosphataemic rickets (XLH) is a genetic skeletal disorder in which chronic renal phosphate wasting leads to progressive musculoskeletal complications. Although rare, its familial nature means a GP might be involved in the care of several affected family members.

XLH is due to inappropriately elevated FGF23, a hormone secreted by bone, and which acts in the kidney to trigger phosphate excretion. Targeting FGF23 has resulted in improved clinical outcomes, particularly in children but also in symptomatic adults with XLH.

The following cases highlight the importance of early detection and initiation of appropriate management.