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Updated: Jun 2, 2025

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
Published on: June 23, 2015
Tuberous sclerosis complex-associated kidney disease in children
Matko Marlais1,2, Djalila Mekahli3,4
1Department of Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK. m.marlais@ucl.ac.uk.
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.
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