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Paediatric Metabolic Bone Disease: A Lifetime Ahead

Advances in Therapy volume 37, pages 38–46 (2020)Cite this article

Abstract

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.

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Acknowledgements

This supplement has been funded by Kyowa Kirin.

Funding

Kyowa Kirin organized the scientific meeting and contributed to the financing of the publication of the opinion of the speakers presented at that meeting (Madrid, November 2018).

Medical Writing, Editorial, and Other Assistance

The author would like to thank Anabel Herrero, PhD for providing medical writing assistance on behalf of Springer Healthcare. Kyowa Kirin funded the writing assistance provided by Springer Healthcare Ibérica S.L. Ruth Blaikie provided the copy editing of this manuscript.

Authorship

The named author meets the International Committee of Medical Journal Editors (ICMJE) criteria for authorship for this article, takes responsibility for the integrity of the work as a whole, and has given his approval for this version to be published.

Disclosures

Carlos Gómez-Alonso declares his participation in counselling and teaching activities, and clinical trials for Amgen, Lilly, MSD, FAES, Alexion, Kyowa Kirin, Italfármaco, Gebro.

Compliance with Ethics Guidelines

This article is based on previously conducted studies and does not contain any new studies with human participants or animals performed by the author.

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Authors and Affiliations

  1. Unidad de Gestión Clínica de Metabolismo Óseo y Mineral, Instituto Reina Sofía de Investigación, RedinRen ISCIII, Hospital Universitario Central de Asturias, Universidad de Oviedo, Oviedo, Spain

    Carlos Gómez-Alonso

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Correspondence to Carlos Gómez-Alonso.

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Cite this article

Gómez-Alonso, C. Paediatric Metabolic Bone Disease: A Lifetime Ahead. Adv Ther 37 (Suppl 2), 38–46 (2020). https://doi.org/10.1007/s12325-019-01174-3

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  • DOI: https://doi.org/10.1007/s12325-019-01174-3

Keywords

  • Bone metabolism
  • Fragility fractures
  • Hypoparathyroidism
  • Hypophosphatasia
  • Osteogenesis imperfecta
  • X-linked hypophosphataemic rickets