Purpose or Case Report: Purpose or Case Report: The most common cause of genetic rickets is X-linked hypophosphatemia (XLH) due to an inactivating mutation in the phosphate-regulating neutral endopeptidase X-linked (PHEX) gene. This mutation leads to elevated fibroblast growth factor 23 (FGF23) concentrations and renal phosphate wasting, which causes hypophosphatemic rickets and osteomalacia. Children with rickets often exhibit leg deformities, poor growth, and disproportionate short stature. The primary treatment goal is to correct or at least improve rickets/osteomalacia based on clinical and biochemical parameters.
The conventional treatment for patients with XLH consists of oral supplements of inorganic phosphate salts combined with active vitamin D, but in some patients, adherence is poor. There is a new, promising human monoclonal antibody called burosumab. This treatment specifically targets the excessive activity of XLH by improving renal phosphate reabsorption and promoting intestinal phosphate absorption through the stimulation of 1,25-dihydroxyvitamin D production. Thus, enhancing phosphate homeostasis in these children, burosumab increases serum phosphate levels, alleviating symptoms, and leading to a reduction in skeletal and muscular complications. The purpose of this article is to assess the radiographic images of 7 patients with congenital rickets under treatment with borusumab, using the Rickets Severity Score (RSS).
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