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From tuberous sclerosis complex to end stage renal disease: who are these patients?

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Abstract

In patients with tuberous sclerosis complex (TSC), renal complications are not limited to bleeding angiomyolipoma (AML); although rare, end-stage renal disease (ESRD) may occur. New treatments (e.g., mammalian target of rapamycin (m-Tor) inhibitors) for AML might influence the epidemiology of ESRD in patients with TSC. In France, 99 patients with TSC from the Renal Epidemiology and Information Network (REIN) registry and having undergone renal replacement therapy (RRT) between 2002 and 2016 were included in the present study. Additional data were collected from the patients’ medical charts. The mean ± standard deviation age at RRT initiation was 48.4 ± 16.4 and 73.8% had a neurologic impairment. Fifty-four patients underwent kidney transplantation after an average of 23 ± 12.3 months on dialysis. Among the 61 patients with additional data the most common renal lesion was AML: 26.2% of the patients had isolated AML, and 26.2% had AML and renal cysts, 65.6% of patients had undergone nephrectomy, and 16.4% had undergone at least one embolization. None of the patients had been treated with an m-Tor inhibitor before dialysis. The graft survival rate was 92.5% at 5 years and 70.2% at 10 years. The present cohort study is the first to have assessed TSC patients on RRT from a national registry. Nephrectomy or embolization due to AML was the leading cause of ESRD in our cohort. By reducing the size of the AML, m-tor inhibitors might lower the risk of complications and thus reduce the number of patients with TSC requiring RRT.

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Acknowledgements

This study was funded by Agence de la Biomédecine. To all the participating centers.

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Authors and Affiliations

  1. Service de Néphrologie, CHU Rennes, 8 rue Henri le Guilloux, 35033, Rennes, France

    Elsa Vabret & Cécile Vigneau

  2. REIN Registry, Agence de la Biomédecine, 93200, Saint Denis La Plaine, France

    Cécile Couchoud & Mathilde Lassalle

  3. INSERM, U1085 IRSET-9, 35033, Rennes, France

    Cécile Vigneau

Authors
  1. Elsa Vabret
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  2. Cécile Couchoud
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  3. Mathilde Lassalle
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  4. Cécile Vigneau
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Correspondence to Elsa Vabret.

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The authors have no conflict of interest.

Ethical approval

Data collection by the REIN registry had been approved by the French national data protection commission (Commission nationale de l'informatique et des libertés, CNIL (Paris, France); reference: 903188). The present study was approved by the REIN registry’s Scientific Advisory Board.

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Vabret, E., Couchoud, C., Lassalle, M. et al. From tuberous sclerosis complex to end stage renal disease: who are these patients?. J Nephrol 34, 607–615 (2021). https://doi.org/10.1007/s40620-020-00714-3

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  • DOI: https://doi.org/10.1007/s40620-020-00714-3

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