Management of urolithiasis associated with tuberous sclerosis complex

Abstract The most common renal symptoms of tuberous sclerosis complex (TSC) are angiomyolipomas (AMLs) and renal cysts; however, some patients with TSC also develop urolithiasis. In this study, we evaluated the incidence, risk factors and clinical courses of TSC-associated urolithiasis. We analyzed a total of 102 patients who met the diagnostic criteria for TSC, of whom 15 (14.7%) had urolithiasis. We compared urinary specific gravity, urine pH, serum calcium, intact parathyroid hormone and the use of antiepileptic agents of the urolithiasis and non-urolithiasis groups. The urine specific gravity and urine pH were higher in the urolithiasis group than in the non-urolithiasis group (P = 0.005, P = 0.042, respectively). No significant difference was found between the two groups with regard to the serum corrected calcium and intact parathyroid hormone levels. The antiepileptic drugs topiramate and zonisamide were more frequently administered to the urolithiasis group than the non-urolithiasis group (P <0.001, P = 0.039, respectively). Four patients in the urolithiasis group underwent surgery. Three patients could not receive extracorporeal shock wave lithotripsy due to the risk of bleeding from the AML, and therefore underwent transurethral lithotripsy. If urolithiasis is comorbid with TSC-associated AML, the treatment options are more limited in cases with multiple AMLs around the stone due to an increased risk of hemorrhage. Prevention and early detection of urolithiasis are beneficial to patients with TSC.