Background: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease caused by mutations of either of 2 genes, TSC1 and TSC2. Renal manifestations include angiomyolipomas (AMLs), multiple cysts, and renal cell carcinoma. AMLs increase bleeding tendency and the risk of renal insufficiency which end-stage develops in 1% of affected patients.
Case report: A 38-year-old woman suffering from TSC since early childhood has developed multiple complications associated with this disease. The patient was diagnosed with brain tumor-giant cell astrocytoma-which was removed in 1992. In 2006, right nephrectomy was performed due to the unsuccessful right renal artery embolization after the massive hemorrhage into the AML. Moreover, the right idiopathic pneumothorax occurred twice. Therefore, the video-assisted thoracoscopic surgery and pleurodesis were conducted (2006, 2013). The patient is intellectually disabled and unable to make decisions on her own. Her legal guardians (parents) make all decisions associated with her treatment. Diagnostic and therapeutic procedures demanding cooperation were conducted under anesthesia. Because of end-stage renal failure, the patient required the renal replacement therapy (RRT). Preemptive kidney transplantation (KTx) was the best solution for this patient. Procedures such as hemodialysis and peritoneal dialysis were infeasible to perform due to the intellectual disability that inhibits essential cooperation. During KTx qualification tests, the expanding AML with risk of hemorrhage was noticed. The patient was qualified for simultaneous left nephrectomy and KTx from the living donor (her father). The surgery was performed on the 2nd of June 2020. The patient is looked after by her parents, stays in good general condition. The patient's creatinine level is maintained at 0.6 to 0.8 mg/dL.
Conclusion: Patients with significant intellectual disability that prevents maintaining conscious cooperation who require RRT must have individually adjusted therapy. In the case of the presented patient, it was decided to perform the preemptive kidney transplantation from her determined father.
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