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
. 2024 Jun;183(6):2563-2570.
doi: 10.1007/s00431-024-05520-8. Epub 2024 Mar 14.

Nutritional status as a predictive factor for paediatric tuberous sclerosis complex-associated kidney angiomyolipomas: a retrospective analysis

Andrew Limavady  1 , Matko Marlais  2   3
Affiliations

Nutritional status as a predictive factor for paediatric tuberous sclerosis complex-associated kidney angiomyolipomas: a retrospective analysis

Andrew Limavady et al. Eur J Pediatr. 2024 Jun.

Abstract

The purpose of this study is to determine the predictive factors of tuberous sclerosis complex (TSC)-associated kidney disease and its progression in children. Retrospective review of children with TSC in a tertiary children's hospital was performed. Relevant data were extracted, and Cox proportional hazards regression was used to establish predictors of kidney lesions. Logistic regression was conducted to identify factors predicting chronic kidney disease (CKD) and high-risk angiomyolipomas (above 3 cm). Kidney imaging data were available in 145 children with TSC; of these, 79% (114/145) had abnormal findings. The only significant predictive factor for cyst development was being female (HR = 0.503, 95% CI 0.264-0.956). Being female (HR = 0.505, 95% CI 0.272-0.937) and underweight (HR = 0.092, 95% CI 0.011-0.800) both lowers the risk of having angiomyolipomas, but TSC2 mutations (HR = 2.568, 95% CI 1.101-5.989) and being obese (HR = 2.555, 95%CI 1.243-5.255) increases risks. Ten (12%) of 81 children with kidney function tested demonstrate CKD stages II-V, and only angiomyolipomas above 3 cm predict CKD. Additionally, 13/145 (9%) children had high-risk angiomyolipomas, whereby current age (adjusted odds ratio (aOR) 1.015, 95% CI 1.004-1.026) and being overweight/obese (aOR 7.129, 95% CI 1.940-26.202) were significantly associated with angiomyolipomas above 3 cm.

Conclusions: While gender and genotype are known predictors, this study includes the novel finding of nutritional status as a predictor of TSC-associated kidney disease. This study sheds light on a possible complex interplay of hormonal influences, obesity, and kidney angiomyolipomas growth, and further investigations focusing on the impact of nutritional status on TSC-associated kidney disease are warranted.

What is known: • Gender and genotype are well-studied predictive factors in TSC kidney disease.

What is new: • Nutritional status may influence the development and the progression of kidney lesions in children with TSC and should not be overlooked. • Management guidelines of TSC-associated kidney disease can address nutritional aspects.

Keywords: Angiomyolipoma; Nutritional status; Paediatrics; Tuberous sclerosis complex.

PubMed Disclaimer

Conflict of interest statement

The authors declare no competing interests.

Similar articles

See all similar articles

Cited by

References

    1. Marom D (2020) Genetics of tuberous sclerosis complex: an update. Childs Nerv Syst 36(10):2489–2496. 10.1007/s00381-020-04726-z. Epub 20200806. PubMed PMID: 32761379 - PubMed
    1. Kingswood JC, Bissler JJ, Budde K, Hulbert J, Guay-Woodford L, Sampson JR et al (2016) Review of the Tuberous Sclerosis Renal Guidelines from the 2012 Consensus Conference: Current Data and Future Study. Nephron 134(2):51–58. 10.1159/00044829. Epub 20160810. PubMed PMID: 27504842 - PubMed
    1. Amin S, Lux A, Calder N, Laugharne M, Osborne J, O’Callaghan F (2017) Causes of mortality in individuals with tuberous sclerosis complex. Dev Med Child Neurol 59(6):612–617. 10.1111/dmcn.13352. Epub 20161209 - PubMed
    1. Eijkemans MJ, van der Wal W, Reijnders LJ, Roes KC, van Waalwijk SB, Pelletier C et al (2015) Long-term follow-up assessing Renal Angiomyolipoma treatment patterns, morbidity, and mortality: an observational study in Tuberous Sclerosis Complex patients in the Netherlands. Am J Kidney Dis 66(4):638–645. 10.1053/j.ajkd.2015.05.016. Epub 20150710 - PubMed
    1. Janssens P, Van Hoeve K, De Waele L, De Rechter S, Claes KJ, Van de Perre E et al (2018) Renal progression factors in young patients with tuberous sclerosis complex: a retrospective cohort study. Pediatr Nephrol 33(11):2085–2093. 10.1007/s00467-018-4003-6. Epub 20180709 - PubMed