The characteristics and optimal treatment of urolithiasis associated with tuberous sclerosis complex

Takashi Hatano,Katsuhisa Endo

doi:10.1007/s11255-021-02871-1

Abstract

PurposeThe most common renal symptoms of tuberous sclerosis complex (TSC) are angiomyolipomas (AMLs) and renal cysts; however, some patients with TSC also develop urolithiasis. We retrospectively investigated the characteristics and treatment of urolithiasis associated with TSC.MethodsWe analyzed 142 patients who met the diagnostic criteria for TSC, of whom 20 (14.1%) had urolithiasis. We compared the patients’ characteristics, urinary specific gravity, urine pH, serum calcium and intact parathyroid hormone in the urolithiasis and non-urolithiasis groups. In the urolithiasis group, the stone characteristics and various treatments were analyzed.ResultsThe antiepileptic drugs topiramate and zonisamide were more frequently administered to the urolithiasis group than the non-urolithiasis group (P = 0.013, P = 0.048, respectively). The urine specific gravity and urine pH levels were higher in the urolithiasis group than in the non-urolithiasis group (P = 0.005, P = 0.042, respectively). A multivariate logistic regression analysis demonstrated that urine-specific gravity (P = 0.018; odds ratio 1.471; 95% confidence interval 1.098–1.872) was a significant predictor of TSC-associated urolithiasis. Four patients could not receive extracorporeal shock wave lithotripsy due to the risk of bleeding from the AML.ConclusionPatients with TSC who have an increased urine specific gravity, alkaline urine, and a longer administration of topiramate and zonisamide tend to demonstrate an increased risk of developing urolithiasis and therefore such cases require adequate care. 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.

Highlights

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder in which hamartomas develop throughout the body, and is associated with various organ disorders [1]
We retrospectively investigated the characteristics and optimal treatment of urolithiasis associated with TSC
We analyzed a total of 142 patients with TSC, 20 of whom (14.1%) had urolithiasis (Table 1)

Summary

Introduction

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder in which hamartomas develop throughout the body, and is associated with various organ disorders [1]. The most common renal manifestations of TSC are angiomyolipomas (AMLs), which are observed in up to 80% of the patients [7]. Renal cysts are another frequent kidney lesion in TSC, and are observed in 14–32% of the patients; the incidence of urolithiasis in TSC is unknown [8]. Since both urolithiasis and rupture of renal AML cause severe pain and hematuria, discrimination between them is very important for the management of TSC.

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Conclusion