Uso del anticuerpo monoclonal anti-FGF23 en el tratamiento de niños y adolescentes con raquitismo hipofosfatémico ligado al cromosoma X

CASINELLI HAMILTON; ROZENFELD PA

Conferencia; Congreso anual de la Soc Latino Americana de endocrinología Pediátrica.; 2019

X-linked hypophosphatemia, a disorder of renal phosphate wasting and the most common heritable form of rickets, is caused by loss-of-function mutations in the PHEX gene, which results in excess of circulating fibroblast growth factor 23 (FGF-23).Excess FGF23 leads to a marked renal phosphate loss with consequent hypophosphatemia, decreases the synthesis of the active metabolite of vitamin D, 1,25-dihydroxyvitamin D. Chronic hypophosphatemia leads to rickets and osteomalacia, which often result in stunted growth, lower-limb deformity, pain, and physical dysfunction.