Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH)

Research output: Contribution to journalAbstractpeer-review


  • Anya Rothenbuhler
  • Dirk Schnabel
  • Wolfgang Högler
  • Agnes Linglart

Colleges, School and Institutes

External organisations

  • Bicêtre Paris Sud Hospital


Early diagnosis, optimal therapeutic management and regular follow up of children with X-linked hypophosphatemia (XLH) determine their long term outcomes and future quality of life. Biochemical screening of potentially affected newborns in familial cases and improving physician's knowledge on clinical signs, symptoms and biochemical characteristics of XLH for de novo cases should lead to earlier diagnosis and treatment initiation. The follow-up of children with XLH includes clinical, biochemical and radiological monitoring of treatment (efficacy and complications) and screening for XLH-related dental, neurosurgical, rheumatological, cardiovascular, renal and ENT complications. In 2018, the European Union approved the use of burosumab, a humanized monoclonal anti-FGF23 antibody, as an alternative therapy to conventional therapy (active vitamin D analogues and phosphate supplements) in growing children with XLH and insufficiently controlled disease.

Diagnostic criteria of XLH and the principles of disease management with conventional treatment or with burosumab are reviewed in this paper.


Original languageEnglish
Early online date27 Mar 2019
Publication statusE-pub ahead of print - 27 Mar 2019


  • X-linked hypophosphatemia (XLH), alfacalcidol, burosumab, osteomalacia, rickets