Tuberous Sclerosis Complex–Associated Tubulointerstitial Kidney Disease

Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease caused by TSC1 or TSC2 mutations, leading to mammalian target of rapamycin (mTOR) overactivation.1 It is characterized by various benign tumors. Renal involvement mainly includes angiomyolipomas (AMLs) or renal cysts. Chronic kidney disease (CKD) in patients with TSC is rare and is usually attributed to nephron reduction related to AML size, ablative therapy, or surgery.2-4 According to various cohorts, the prevalence of stage 2 CKD is 25% and that of stage 3 CKD approximately 7%, with a median age of onset of renal failure in the fourth decade of life.4,S1 Of particular interest, some patients with TSC develop CKD without large AML and/or invasive therapies. We performed a clinicopathologic evaluation of 7 patients with TSC with CKD, providing further insights into a potential new form of TSC-associated tubulointerstitial kidney disease.