Maria Luisa Brandi, Gema Ariceta, Signe Sparre Beck-Nielsen, Annemieke M Boot, Karine Briot, Carmen de Lucas Collantes, Francesco Emma, Sandro Giannini, Dieter Haffner, Richard Keen, Elena Levtchenko, Outi Mӓkitie, Ola Nilsson, Dirk Schnabel, Liana Tripto-Shkolnik, M Carola Zillikens, Jonathan Liu, Alina Tudor, M Zulf Mughal
Background: X-linked hypophosphataemia (XLH) is a rare, inherited, phosphate-wasting disorder that elevates fibroblast growth factor 23 (FGF23), causing renal phosphate-wasting and impaired active vitamin D (1,25(OH)2 D) synthesis. Disease characteristics include rickets, osteomalacia, odontomalacia, and short stature. Historically, treatment has been oral phosphate and 1,25(OH)2 D supplements. However, these treatments do not correct the primary pathogenic mechanism or treat all symptoms and can be associated with adverse effects...
2022: Therapeutic Advances in Chronic Disease