Refractory rickets: A case of X-linked hypophosphatemic rickets (PHEX gene variation)

Abstract

Hypophosphatemic rickets is a type of hereditary rickets distinguished by both hypophosphatemia and hyperphosphaturia. X-linked hypophosphatemic rickets (XLH) is the most prevalent type of heritable hypophosphatemic rickets. We describe a 3-year-old child whose phosphate-regulating endopeptidase homolog X-linked (PHEX) gene variation resulted in lower limb abnormalities and short stature. A similar history was noted in the father. We highlight the significance of a prompt diagnosis and initiation of treatment to prevent subsequent sequelae.