Kidneys in Children with Tuberous Sclerosis Complex-An Up-to-Date Review

Area of Science:

• Nephrology
• Genetics
• Radiology

Background:

• Tuberous sclerosis complex (TSC) is a genetic disorder causing benign tumors, notably in kidneys.
• Renal manifestations include angiomyolipomas, cysts, and increased renal cell carcinoma risk.
• Kidney monitoring is vital for early detection, hypertension management, and chronic kidney disease risk assessment.

Purpose of the Study:

• Review recent literature on diagnosing and managing TSC-related renal lesions.
• Highlight the role of various imaging techniques in TSC kidney care.
• Emphasize a multidisciplinary approach for improved patient outcomes.

Main Methods:

• Literature review of recent studies on TSC renal manifestations.
• Focus on diagnostic and surveillance imaging modalities like ultrasound and MRI.
• Analysis of current treatment strategies, including mTOR inhibitors.

Main Results:

• Ultrasound and MRI are key for diagnosis and surveillance of renal lesions in TSC.
• Arterial hypertension, renal artery stenosis, and urolithiasis are common complications.
• TSC2/PKD1 contiguous gene syndrome can cause co-occurrence of TSC and ADPKD.
• mTOR inhibitors are effective in reducing tumor size, often avoiding surgery.

Conclusions:

• A multidisciplinary approach integrating various imaging methods is crucial for TSC care.
• Early and accurate diagnosis of renal lesions in TSC improves patient management.
• Optimizing treatment strategies, including medical and surgical interventions, enhances outcomes.