Paediatric Metabolic Bone Disease: A Lifetime Ahead

Adv Ther. 2020 May;37(Suppl 2):38-46. doi: 10.1007/s12325-019-01174-3. Epub 2020 Mar 31.


Beyond its functions in locomotion, support and protection of vital organs, bone also interacts with other organs to adjust mineral balance in response to physiological requirements. Bone remodelling is a continuous process of bone resorption and formation for the purpose of maintaining healthy bone mass and growth. Any derangement in this process can cause bone disorders with important clinical consequences. The most prominent features of bone diseases in children include early bone fractures, deformities and pain, which can persist and worsen later in life if an accurate and timely diagnosis is not achieved. Biochemical and genetic testing usually help to discriminate the aetiology of the disease, which determines the subsequent management and follow-up. This review focuses on major genetic metabolic bone diseases in children, their pathophysiological mechanisms, the potential therapeutic interventions and the possible consequences in adulthood of the disease and its treatments.

Keywords: Bone metabolism; Fragility fractures; Hypoparathyroidism; Hypophosphatasia; Osteogenesis imperfecta; X-linked hypophosphataemic rickets.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Bone Diseases, Metabolic / diagnosis*
  • Bone Diseases, Metabolic / genetics*
  • Bone Diseases, Metabolic / physiopathology*
  • Bone Diseases, Metabolic / therapy*
  • Child
  • Child, Preschool
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Infant
  • Infant, Newborn
  • Male