Observational Retrospective Study on Kidney Involvement in Children with Tuberous Sclerosis Complex

What this Trial Is About

Tuberous sclerosis complex (TSC) is a genetic disorder caused by mutations in TSC1 and TSC2 genes, leading to skin, neurological, and kidney problems. This research evaluates the prevalence of kidney involvement, specifically angiomyolipomas and cysts, in children with TSC. Kidney issues in TSC can be serious, including hemorrhages, anemia, high blood pressure, and kidney failure, which are a leading cause of death in affected patients, especially adults. Data about kidney problems in children with TSC are limited, so this study aims to fill that gap. This is an observational, retrospective, multicenter study focusing on pediatric patients diagnosed with TSC. It reviews clinical evaluations done between January 2018 and June 2021 to determine how common kidney angiomyolipomas and cysts are. The study also explores the relationship between genetic mutations and kidney lesions and examines kidney function and blood pressure outcomes in these children. Additionally, it looks at how angiomyolipomas change in size for patients treated with Everolimus for neurological symptoms. Participants will be children under 17 years old with TSC who were seen in outpatient or inpatient settings during the study period. Researchers will assess kidney lesions using medical records and previous imaging. They will monitor kidney function, blood pressure, and the size of angiomyolipomas, especially in those receiving Everolimus. The main outcome measured is the stage of angiomyolipomas at the start of observation. The study relies on existing data and informed consent from parents or guardians, with no new treatments administered as part of the study.

Observational, Retrospective, Multicenter, Nonprofit Study on the Prevalence of Renal Involvement in Pediatric Patients With Tuberous Sclerosis