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Nephrocalcinosis can disappear in infants receiving early lumasiran therapy

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Abstract

Background

Lumasiran is the first RNA interference (RNAi) therapy of primary hyperoxaluria type 1 (PH1). Here, we report on the rapid improvement and even disappearance of nephrocalcinosis after early lumasiran therapy.

Case-diagnosis/treatment

In patient 1, PH1 was suspected due to incidental discovery of nephrocalcinosis stage 3 in a 4-month-old boy. Bilateral nephrocalcinosis stage 3 was diagnosed in patient 2 at 22 months concomitantly to acute pyelonephritis. Urinary oxalate (UOx) and glycolate (UGly) were increased in both patients allowing to start lumasiran therapy before genetic confirmation. Nephrocalcinosis started to improve and disappeared after 27 months and 1 year of treatment in patients 1 and 2, respectively.

Conclusion

These cases illustrate the efficacy of early lumasiran therapy in infants to improve and even normalize nephrocalcinosis. As proposed in the 2023 European guidelines, the interest of starting treatment quickly without waiting for genetic confirmation may have an impact on long-term outcomes.

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Data availability

The datasets generated during and/or analyzed during the current study are not publicly available due to confidential data but are available from the corresponding author on reasonable request.

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Authors and Affiliations

  1. Service de Néphrologie, Rhumatologie et Dermatologie Pédiatriques, Centre de Référence des Maladies Rénales Rares Néphrogones, Filières Maladies Rares ORKID et ERK-Net, CHU de Lyon, Bron, France

    Dima Kayal, Anne-Laure Sellier-Leclerc, Aurélie de Mul & Justine Bacchetta

  2. Service Biochimie et Biologie Moléculaire, Maladies Héréditaires du Métabolisme CHU de Lyon, Bron, France

    Cécile Acquaviva-Bourdain

  3. Service de Radiologie, CHU de Lyon, Bron, France

    Sarah Cabet

  4. INSERM, UMR 1033, Faculté de Médecine Lyon Est, Université Claude Bernard Lyon1, Lyon, France

    Justine Bacchetta

  5. Faculté de Médecine Lyon Est, Université Claude Bernard Lyon 1, Lyon, France

    Justine Bacchetta

Authors
  1. Dima Kayal
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  2. Anne-Laure Sellier-Leclerc
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  3. Cécile Acquaviva-Bourdain
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  4. Aurélie de Mul
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  5. Sarah Cabet
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  6. Justine Bacchetta
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Corresponding author

Correspondence to Dima Kayal.

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Lyon University Hospital Ethics committees.

Conflict of interest

JB received consulting, research, and speaker fees from Alnylam and consulting fees from Dicerna/Novo Nordisk and Biocodex. CAB and ALSL received consulting fees from Alnylam.

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Kayal, D., Sellier-Leclerc, AL., Acquaviva-Bourdain, C. et al. Nephrocalcinosis can disappear in infants receiving early lumasiran therapy. Pediatr Nephrol 39, 2079–2082 (2024). https://doi.org/10.1007/s00467-023-06268-3

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  • DOI: https://doi.org/10.1007/s00467-023-06268-3

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