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Successful Burosumab Treatment in an Adult Patient with X-Linked Hypophosphatemia and Chronic Kidney Disease Stage 3b

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Abstract

X-linked hypophosphatemic rickets (XLH) is a genetic cause of renal hypophosphatemia due to inactivation of the PHEX gene, with an inappropriate concentration of fibroblast growth factor 23 (FGF23). Burosumab, an anti-FGF23 monoclonal antibody, is a validated treatment for XLH, but its use in patients with chronic kidney disease (CKD) has not been validated. A 61-year-old man with XLH developed CKD during follow-up. Conventional treatment (phosphate salts and active vitamin D analogs) was poorly tolerated. Treatment with burosumab was decided at a multi-professional meeting. Before burosumab initiation, his measured glomerular filtration rate was 44 mL/min/1.73 m2 defining CKD stage 3b and intact FGF23 concentration was very high (4496.0 ng/mL, N: 22.7–93.1) due to both XLH and CKD. Severe hypophosphatemia was observed after the two first injections of burosumab at usual doses (1 mg/kg monthly) and concomitant discontinuation of the conventional treatment. After increasing the dose and reducing the interval between doses (1.3 mg/kg every three weeks) from the third injection, serum phosphate concentration normalized and remained around the lower limit of the normal range. A local cutaneous reaction was observed just after the second injection, but did not recur. We report for the first time the efficacy and good short-term tolerance of burosumab in a patient with XLH and CKD, subject to a higher dosage aimed at achieving a phosphatemia at the lower limit of the normal range.

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Data Availability

Data supporting the findings of this study will be made available upon reasonable request.

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Acknowledgements

The authors would like to thank Professor Pascal Houillier for his proofreading of this case report.

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Authors and Affiliations

  1. Service de Physiologie, Unité d’Explorations Fonctionnelles Métaboliques et Rénales, Hôpital Européen Georges-Pompidou, Assistance Publique - Hôpitaux de Paris, Paris, France

    Arthur Michon-Colin, Elise Bouderlique, Gérard Maruani & Marie Courbebaisse

  2. Université Paris Cité (UPC), Paris, France

    Arthur Michon-Colin, Elise Bouderlique, Dominique Prié, Karine Briot & Marie Courbebaisse

  3. Centre de Référence des Maladies Rénales Héréditaires de l’Enfant et de l’Adulte (MARHEA), 75015, Paris, France

    Arthur Michon-Colin, Elise Bouderlique, Gérard Maruani & Marie Courbebaisse

  4. Centre de Référence des Maladies Rares du Calcium et du Phosphate, 75015, Paris, France

    Arthur Michon-Colin, Elise Bouderlique, Gérard Maruani & Marie Courbebaisse

  5. INSERM U1151, Institut Necker Enfants Malades, Paris, France

    Dominique Prié & Marie Courbebaisse

  6. Service de Physiologie, Hôpital Necker, Assistance Publique - Hôpitaux de Paris, 75015, Paris, France

    Dominique Prié

  7. Université Paris-Saclay, Paris, France

    Jérôme Nevoux

  8. Institut de l’Audition, Paris, France

    Jérôme Nevoux

  9. Service ORL et implants auditifs, Hôpital Bicêtre, Assistance Publique - Hôpitaux de Paris Le Kremlin-Bicêtre, Paris, France

    Jérôme Nevoux

  10. Service de Rhumatologie, Hôpital Cochin, Assistance Publique - Hôpitaux de Paris, Paris, France

    Karine Briot

Authors
  1. Arthur Michon-Colin
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  2. Elise Bouderlique
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  3. Dominique Prié
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  4. Gérard Maruani
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  5. Jérôme Nevoux
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  6. Karine Briot
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  7. Marie Courbebaisse
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Corresponding author

Correspondence to Arthur Michon-Colin.

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Conflict of interest

KB: fees for conference organization, board member of the XLH registry sponsored by KYOWA KIRIN PHARMA and participation in burosumab clinical trials conducted by KYOWA KIRIN PHARMA. GM: fees for moderating a round table during a conference organized by KYOWA KIRIN PHARMA. AMC, EB, DP, JN, and MC have no competing interests to declare that are relevant to the content of this article.

Human and Animal Rights and Informed Consent

The patient has been informed and has not objected to the use of this data for this publication, which has been collected in compliance with the requirements of the CNIL (Commission Nationale de l'Informatique et des Libertés). Under these conditions, recourse to an ethics commission is optional under French legislation. Signed consent to participate in research was obtained from our Physiology Department.

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Michon-Colin, A., Bouderlique, E., Prié, D. et al. Successful Burosumab Treatment in an Adult Patient with X-Linked Hypophosphatemia and Chronic Kidney Disease Stage 3b. Calcif Tissue Int 114, 310–314 (2024). https://doi.org/10.1007/s00223-023-01169-x

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  • DOI: https://doi.org/10.1007/s00223-023-01169-x

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