Case Report: Rapid progression to end-stage renal disease within 3 years in tuberous sclerosis complex challenging conventional risk stratification

作者：rushuang Yang, Xing Zheng, Ting Wang, Yanling Zhang · 发表于：Frontiers in Medicine · 年份：2026 · DOI：10.3389/fmed.2026.1873123 · 研究领域：Tuberous Sclerosis Complex Research、Renal cell carcinoma treatment、PI3K/AKT/mTOR signaling in cancer

Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder, with renal involvement typically presenting as angiomyolipomas (AML) and cysts. The progression to end-stage renal disease (ESRD) occurs in about 3.1% of cases. Current guidelines use AML size (>3 cm) as the threshold for initiating mTOR inhibitors, with less focus on rapidly progressing disease. This report describes a 28-year-old female with TSC whose renal function rapidly progressed from advanced CKD (stage G4A3) to anuria and ESRD within 3 years. She presented with significant proteinuria (3+, 5.94 g/24 h) and hematuria (3+) during pregnancy, but imaging showed no large tumors. Due to financial constraints, treatment was interrupted. Over approximately 30 months, her bilateral kidneys were replaced by diffuse AML, resulting in renal failure. This case challenges the traditional view of slow kidney progression in TSC and underscores the importance of early detection of proteinuria and hematuria as key warning signs. We recommend a multidisciplinary team (MDT) approach for high-risk patients, such as women of childbearing age, with dynamic monitoring of renal function and early proactive treatment to delay ESRD progression.