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

Anya Rothenbuhler, Dirk Schnabel, Wolfgang Högler, Agnes Linglart

Research output: Contribution to journalAbstractpeer-review

11 Citations (Scopus)
264 Downloads (Pure)

Abstract

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
JournalMetabolism
Early online date27 Mar 2019
DOIs
Publication statusE-pub ahead of print - 27 Mar 2019

Keywords

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

Fingerprint

Dive into the research topics of 'Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH)'. Together they form a unique fingerprint.

Cite this