Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

X-linked hypophosphataemia (XLH) is a rare metabolic bone disorder caused by pathogenic variants in the PHEX gene, which is predominantly expressed in osteoblasts, osteocytes and odontoblasts. XLH is characterized by increased synthesis of the bone-derived phosphaturic hormone fibroblast growth factor 23 (FGF23), which results in renal phosphate wasting with consecutive hypophosphataemia, rickets, osteomalacia, disproportionate short stature, oral manifestations, pseudofractures, craniosynostosis, enthesopathies and osteoarthritis. Patients with XLH should be provided with multidisciplinary care organized by a metabolic bone expert. Historically, these patients were treated with frequent doses of oral…

• AU
  Aarhus Universitet
• AU
  Aarhus Universitetshospital
• HY
  Helsingin Yliopisto
• OP
  Ospedale Pediatrico Bambino Gesù
• UO
  University of Southampton
• UO
  University of Glasgow
• IN
  Institut National de la Santé et de la Recherche Médicale
• SE
  Semmelweis Egyetem
• GÜ
  Gazi Üniversitesi
• UD
  Università degli Studi di Padova
• KI
  Karolinska Institutet
• VU
  Vrije Universiteit Brussel
• CN
  Centre National de la Recherche Scientifique
• UM
  Universitair Medisch Centrum Groningen
• NA
  National and Kapodistrian University of Athens
• AU
  Aristotle University of Thessaloniki
• UD
  Università degli Studi della Campania Luigi Vanvitelli
• PR
  Pirogov Russian National Research Medical University
• EU
  Erasmus Universitair Medisch Centrum Rotterdam
• UH
  Universitätsklinikum Hamburg-Eppendorf