A Mismanaged Case of Hypophosphatemic Rickets

X-linked hypophosphatemic rickets is a common cause of inherited hypophosphatemia and is caused by mutation in the PHEX gene, resulting in excessive expression of FGF23 which causes phosphaturia. Due to its rarity, X linked hypophosphatemic rickets is poorly known and diagnosis is frequently delayed. Conventional treatment is based on oral phosphate salts supplementation and activated vitamin D analogs, which however, cannot cure the disease in most cases. Keywords: X linked hypophosphatemic rickets, FGF23, PTH