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Cited by 5Tuberous Sclerosis Complex ResearchRenal cell carcinoma treatmentGenetic and Kidney Cyst Diseases

The extent of kidney involvement in paediatric tuberous sclerosis complex

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Limavady, Andrew, Marlais, Matko·2024·Pediatric Nephrology
DOI 10.1007/s00467-024-06417-2PMC PMC11349837
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Abstract

Background: Tuberous sclerosis (TSC)–associated kidney disease is a leading cause of mortality in adults with TSC. This study aimed to understand TSC features in children, particularly kidney involvement, to inform clinical care for this specific group. Methods: This retrospective cohort study included all paediatric (< 19 years) TSC cases at a large tertiary paediatric nephrology centre. Relevant data were collected from patients’ records, statistical analyses were performed to identify associations between variables, survival probabilities were estimated with Kaplan‒Meier curves, and log-rank tests were conducted to assess survival differences among genetic mutations. Results: A total of 182 children with TSC were included. Among the 145 children with available kidney imaging data, 78.6% (114/145) exhibited kidney lesions. Angiomyolipomas (AMLs) were significantly more prevalent in the TSC2 mutation group (p = 0.018). Children with TSC2 mutations generally had poorer lesion-free survival than those with TSC1 mutations, but this difference was only significant for AMLs (p = 0.030). The change in size of largest AMLs increased with age and doubled in children above 9 years; a similar pattern was observed when stratified by genetic mutation. In contrast, kidney cysts exhibited two peaks: one in children under 5 years (2.31 mm/year) and the second in children between 15–19 years (2.82 mm/year). Chronic kidney disease was observed in 12.3% (10/81) of children, and high-risk AMLs above 3 cm were observed in 9% (13/145). Conclusions: While TSC kidney disease emerges later in the disease course than neurological features, our findings emphasise the importance of kidney surveillance during childhood, including routine kidney imaging, kidney function, and blood pressure monitoring. Graphical abstract:

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  • CKD prevalence in TSC ranges from approximately 12-13% in pediatric populations to 20-40% in adults.

    “CKD prevalence in TSC ranges from approximately 12-13% in pediatric populations to 20-40% in adults, underscoring the importance of accounting for renal function in future biomarker studies (30)(31)(32).”

    From Amyloid-Independent Elevation of Plasma phosphorylated tau-217 Tracks Neurodegenerative Risk in Tuberous Sclerosis Complex: Implications for mTOR-Targeted Intervention (2026) · cites this paper as [31]

    Table 5 and the kidney-complications section report CKD or kidney insufficiency in 12.3% (10/81) of children with available eGFR estimates, supporting the pediatric figure for this cohort. The paper does not report the claimed 20–40% adult CKD prevalence; its Discussion instead says the precise proportion of TSC patients with CKD remains unclear. Page numbers were not available in our copy. (LLM, conf=0.88)

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References 36 · Cited by 5

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Authors
Limavady, A., & Marlais, M.
Affiliations
  • University College London (GB)
  • Great Ormond Street Hospital (GB)
Corresponding author
Marlais, Matko
ORCID
Venue
Pediatric Nephrology
Publisher
Springer Science and Business Media LLC
Published
2024-06-04
Volume
39
Issue
10
Pages
2927-2937
ISSN
  • 0931-041X (ISSN-L)
  • 1432-198X
DOI
10.1007/s00467-024-06417-2
PMC
PMC11349837
OpenAlex
W4399327421
Cited by
5
References
36
Citations by year
2026: 3 · 2025: 1 · 2024: 1
FWCI
1.42
Type
journal article
Language
en
Open access
Licence
Locations
  • Pediatric Nephrology (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
Funders
  • University College London
  • Great Ormond Street Institute of Child Health
Topics
  • Health Sciences › Medicine › Physiology › Tuberous Sclerosis Complex Research
  • Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Renal cell carcinoma treatment
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
Keywords
tuberous sclerosis complex, angiomyolipoma, TSC1 mutation, TSC2 mutation, renal cysts, chronic kidney disease, kidney imaging
MeSH terms
Tuberous Sclerosis Complex 1 Protein, Tuberous Sclerosis Complex 2 Protein, Adolescent, Child, Child, Preschool, Female, Humans, Infant, Kidney, Kidney Diseases, Male, Mutation, Retrospective Studies, Tuberous Sclerosis, Angiomyolipoma

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