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

Metabolism. 2020 Feb:103S:153892. doi: 10.1016/j.metabol.2019.03.009. Epub 2019 Mar 27.

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.

Keywords: Alfacalcidol; Burosumab; Osteomalacia; Rickets; X-linked hypophosphatemia (XLH).

Publication types

  • Review

MeSH terms

  • Adolescent
  • Antibodies, Monoclonal / therapeutic use
  • Antibodies, Monoclonal, Humanized
  • Child
  • Child, Preschool
  • Early Diagnosis
  • Familial Hypophosphatemic Rickets / diagnosis*
  • Familial Hypophosphatemic Rickets / genetics
  • Familial Hypophosphatemic Rickets / therapy*
  • Fibroblast Growth Factor-23
  • Fibroblast Growth Factors / antagonists & inhibitors
  • Fibroblast Growth Factors / physiology
  • Follow-Up Studies
  • Humans
  • Infant
  • Infant, Newborn
  • Monitoring, Physiologic
  • Mutation
  • PHEX Phosphate Regulating Neutral Endopeptidase / genetics
  • Phosphates / therapeutic use
  • Quality of Life
  • Radiography
  • Vitamin D / therapeutic use

Substances

  • Antibodies, Monoclonal
  • Antibodies, Monoclonal, Humanized
  • FGF23 protein, human
  • Phosphates
  • Vitamin D
  • Fibroblast Growth Factors
  • Fibroblast Growth Factor-23
  • PHEX Phosphate Regulating Neutral Endopeptidase
  • PHEX protein, human
  • burosumab