Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Apr;34(2):607-615.
doi: 10.1007/s40620-020-00714-3. Epub 2020 Mar 4.

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

Elsa Vabret  1 , Cécile Couchoud  2 , Mathilde Lassalle  2 , Cécile Vigneau  3   4
Affiliations
Free article

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

Elsa Vabret et al. J Nephrol. 2021 Apr.
Free article

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.

Keywords: End stage renal disease; Epidemiology; REIN registry; Tuberous sclerosis complex; m-tor inhibitor.

PubMed Disclaimer

References

    1. Jansen FE, van Nieuwenhuizen O, van Huffelen AC (2004) Tuberous sclerosis complex and its founders. J Neurol Neurosurg Psychiatry 75(5):770 - DOI
    1. van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S et al (1997) Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277(5327):805–808 - DOI
    1. Tee AR, Fingar DC, Manning BD, Kwiatkowski DJ, Cantley LC, Blenis J (2002) Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. Proc Natl Acad Sci USA 99(21):13571–13576 - DOI
    1. Budde K, Gaedeke J (2012) Tuberous sclerosis complex-associated angiomyolipomas: focus on mTOR inhibition. Am J Kidney Dis 59(2):276–283 - DOI
    1. O’Callaghan FJ, Shiell AW, Osborne JP, Martyn CN (1998) Prevalence of tuberous sclerosis estimated by capture–recapture analysis. Lancet Lond Engl 351(9114):1490 - DOI

MeSH terms