X-Linked hypophosphatemia (XLH) is the most common form of hereditary rickets caused by loss-of function mutations in the PHEX gene. XLH is characterized by hypophosphatemia secondary to renal phosphate wasting, inappropriately low concentrations of 1,25 dihydroxyvitamin D and high circulating levels of fibroblast growth factor 23 (FGF23).This review summarizes current knowledge on phosphorus metabolism in XLH.
Rev Endocr Metab Disord. 2017 Mar;18(1):107-115.
Fuente R, Gil-Peña H, Claramunt-Taberner D, Hernández O,Fernández-Iglesias A, Alonso-Durán L, Rodríguez-Rubio E, Santos F.