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Hypophosphataemic Rickets: Diagnosis Algorithm—How Not to Make a Mistake

Advances in Therapy volume 37, pages 95–104 (2020)Cite this article

Abstract

Hypophosphataemic rickets is a heterogeneous group of entities characterized by rickets or osteomalacia due to a phosphate deficit caused mainly by decreased renal reabsorption. They are also characterized by defective intestinal absorption of calcium and rickets or osteomalacia unresponsive to cholecalciferol. These metabolic alterations lead to growth retardation, bone pain and deformities, and short stature. For a correct diagnosis and treatment of all forms of rickets, the basic aspects of pathophysiology of the calcium-phosphorus metabolism and the relevance of the bone-kidney axis modulated by the presence of phosphaturic agents need to be known. Diagnosis of these diseases includes clinical assessment, blood and urine analytical tests, and bone x-ray. The aim of this article is to briefly describe the pathophysiology, signs, symptoms, and clinical forms of hypophosphataemic rickets, proposing a diagnosis algorithm that can help in the clinical practice.

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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 Fernando Sánchez Barbero, PhD, and Ana María Palma Nieto on behalf of Springer Healthcare for providing medical writing assistance and translation. Kyowa Kirin funded the writing assistance provided by Springer Healthcare Ibérica S.L.

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

Domingo González-Lamuño has nothing to disclose.

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. Profesor Titular de Pediatría, Universidad de Cantabria, Servicio de Pediatría, Hospital Universitario Marqués de Valdecilla, Santander, Spain

    Domingo González-Lamuño

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  1. Domingo González-Lamuño
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Correspondence to Domingo González-Lamuño.

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González-Lamuño, D. Hypophosphataemic Rickets: Diagnosis Algorithm—How Not to Make a Mistake. Adv Ther 37, 95–104 (2020). https://doi.org/10.1007/s12325-019-01184-1

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Keywords

  • Calcipenic rickets
  • Calcitriol
  • Calcium
  • FGF23
  • Phosphate
  • Phosphopenic rickets