X-linked hypophosphataemia is a rare genetic disease which leads to a renal phosphate leak. In children, the disease manifests as vitamin D-resistant rickets. The standard medical treatment is oral administration of a combination of phosphate plus a vitamin D analogue. In adults, the value of this phosphate + vitamin D analogue combination is less well established than in children. Burosumab was first authorised in the European Union for use in children and adolescents with X-linked hypophosphataemia (see Prescrire Int n° 206). It has now also been authorised for use in adults. In one placebo-controlled trial with a follow-up period of only 24 weeks and methodological weaknesses, burosumab increased serum phosphate levels, but had no demonstrated effect on clinical endpoints. The principal known adverse effects of burosumab are: injection site reactions, hypersensitivity reactions, and hyperphosphataemia warranting close laboratory and radiological monitoring to detect potential ectopic calcification, notably cardiac and renal mineralisation.
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