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
Review
. 2025 Jun;40(6):1871-1877.
doi: 10.1007/s00467-024-06642-9. Epub 2025 Jan 15.

Tuberous sclerosis complex-associated kidney disease in children

Matko Marlais  1   2 , Djalila Mekahli  3   4
Affiliations
Review

Tuberous sclerosis complex-associated kidney disease in children

Matko Marlais et al. Pediatr Nephrol. 2025 Jun.

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder which can have manifestations in the kidneys, along with other organ systems. Children with TSC may develop kidney lesions at any point during childhood, and typically these are angiomyolipomata (AML) and/or kidney cysts. Children may also have hypertension associated with TSC-associated kidney disease, and rarely reduced kidney function. New guidelines for the management of TSC-associated kidney disease in children and adults were published in 2024. This educational review summarises the relevant clinical aspects of these guidelines for paediatric nephrologists through a series of four clinical cases. These cases cover management of hypertension, frequency of follow-up and frequency of kidney imaging. Difficult clinical scenarios are reviewed, such as the management of TSC2-PKD1 contiguous gene syndrome and the management of large AMLs in children with TSC.

Keywords: Child; Genetics; Imaging; Kidney; Tuberous sclerosis.

PubMed Disclaimer

Conflict of interest statement

Declarations. Conflict of interest: The authors declare no competing interests.

Figures

None
A higher resolution version of the Graphical abstract is available as Supplementary information
Fig. 1
Fig. 1
a, b Comparison of kidney lesion visualisation in TSC between US and MRI. Arrow on T2-weighted MRI image in right panel shows the lesion which is represented on left US panel, lesion measures 18 mm × 17 mm in Fig. 1a
Fig. 2
Fig. 2
MRI images showing multiple bilateral renal cysts in an 8-year-old girl with TSC2–PKD1 contiguous gene syndrome (MRI acquisition sequence: T2-weighted with fat saturation)
Fig. 3
Fig. 3
MRI of a large fat-poor AML, eventually confirmed histologically after biopsy was undertaken for rapid growth (MRI acquisition sequence: T1-weighted with fat saturation)
See this image and copyright information in PMC

References

    1. Bissler JJ, Christopher Kingswood J (2018) Renal manifestation of tuberous sclerosis complex. Am J Med Genet 178:338–347. 10.1002/ajmg.c.31654 - PubMed
    1. Kingswood JC, Belousova E, Benedik MP et al (2019) Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness. Nephrol Dial Transplant 34:502–508. 10.1093/ndt/gfy063 - PMC - PubMed
    1. Curatolo P, Bombardieri R, Jozwiak S (2008) Tuberous sclerosis. Lancet 372:657–668. 10.1016/S0140-6736(08)61279-9 - PubMed
    1. Mekahli D, Müller R-U, Marlais M et al (2024) Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group. Nat Rev Nephrol 20:402–420. 10.1038/s41581-024-00818-0 - PubMed
    1. Lurbe E, Agabiti-Rosei E, Cruickshank JK et al (2016) 2016 European Society of Hypertension guidelines for themanagement of high blood pressure in children and adolescents. J Hypertens 34:1887–1920. 10.1097/HJH.0000000000001039 - PubMed

Substances

LinkOut - more resources