Gema Ariceta, Signe Sparre Beck-Nielsen, Annemieke M Boot, Maria Luisa Brandi, Karine Briot, Carmen de Lucas Collantes, Francesco Emma, Sandro Giannini, Dieter Haffner, Richard Keen, Elena Levtchenko, Outi Mӓkitie, M Zulf Mughal, Ola Nilsson, Dirk Schnabel, Liana Tripto-Shkolnik, Jonathan Liu, Angela Williams, Sue Wood, M Carola Zillikens
BACKGROUND: X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive, renal phosphate-wasting disorder characterized by a pathological increase in FGF23 concentration and activity. Due to its rarity, diagnosis may be delayed, which can adversely affect outcomes. As a chronic disease resulting in progressive accumulation of musculoskeletal manifestations, it is important to understand the natural history of XLH over the patient's lifetime and the impact of drug treatments and other interventions...
September 27, 2023: Orphanet Journal of Rare Diseases