Everolimus on cystic kidney disease burden reduction in pediatric tuberous sclerosis complex patients: a case series

Background: Tuberous Sclerosis complex (TSC) is a multisystemic neurocutaneous genetic condition with high rates of morbidity and mortality from subependymal giant cell astrocytoma (SEGA), renal angiomyolipoma, and renal cyst complications. Everolimus is an inhibitor for mTORC1 and is currently used to treat TSC for its main role in rapidly reducing SEGA volume and seizure burden, although mainly studied in the adult population. It has also been shown to stabilize estimated glomerular filtration rate and reduce renal angiomyolipoma size in the adult population.

Case presentation: This case report illustrates three pediatric patients placed on everolimus for SEGA and seizure control with incidental findings of the disappearance of or decreased burden of cystic kidney disease after everolimus therapy. In one patient, the cyst burden remained stable even after the cessation of everolimus while the SEGA resumed growth.

Conclusions: This report demonstrates the utility of everolimus in not only renal angiomyolipomas but also cystic kidney disease particularly in pediatric patients with a promising role in preserving renal function and preventing long term sequelae such as hematuria and hemorrhage from larger renal cysts especially if used early on in disease course.