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The extent of kidney involvement in paediatric tuberous sclerosis complex
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Journal Article
The extent of kidney involvement in paediatric tuberous sclerosis complex
2024
Overview
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
A higher resolution version of the Graphical abstract is available as
Supplementary information
Publisher
Springer Berlin Heidelberg,Springer,Springer Nature B.V
Subject
/ Child
/ Children
/ Complications and side effects
/ Female
/ Humans
/ Infant
/ Kidney Diseases - epidemiology
/ Male
/ Medicine
/ Mutation
/ Original
/ Survival
/ Tuberous Sclerosis - complications
/ Tuberous Sclerosis - diagnosis
/ Tuberous Sclerosis - genetics
/ Tuberous Sclerosis Complex 1
/ Tuberous Sclerosis Complex 1 Protein - genetics
/ Tuberous Sclerosis Complex 2
/ Tuberous Sclerosis Complex 2 Protein - genetics
/ Urology
