Vitamin D-resistant rickets (X-linked hypophosphataemic rickets)

SummaryRickets is a condition affecting the growing skeleton, causing demineralisation of bone, growth disturbance and deformity. Most forms of the disease are due to alterations in vitamin D homeostasis. Vitamin D-resistant rickets, however, is due to a disorder of renal phosphate reabsorption. X-linked hypophosphataemic rickets (XLHR) is the commonest inherited form of these disorders and this article will concentrate on this variant of the disease, summarising its clinical features and pathophysiology and outlining the goals and methods of treatment