Kidney transplantation (KT) is the preferred treatment for end-stage kidney disease (ESKD), while preemptive (PE) living donor (LD) KT is associated with better survival, quality of life, and lower costs. Tuberous sclerosis complex (TSC) is a genetic multisystem disorder. Renal involvement (multiple bilateral angiomyolipoma [AMLs], cysts, renal cell carcinoma [RCC]) is related to significant morbidity, including ESKD and KT. Nephrectomy in TSC patients before KT is controversial. Affected kidneys carry a risk of hemorrhage or malignancy, while AMLs may be fat-poor and are often hardly distinguishable from RCC in magnetic resonance (MR)/computed tomography. On the other hand nephrectomy impedes PE KT. Mammalian target of rapamycin inhibitors (mTORi) have proved efficacy in many TSC complications, including AMLs, fat-poor AMLs, TSC-related RCC, and immunosuppressive (IS) treatment.
A 29-year-old female TSC patient was referred for evaluation to the TSC reference center. Her family history was negative for TSC. A clinical evaluation revealed multisystem TSC manifestation (skin, brain, lungs, kidneys). MR disclosed indeterminate fat-poor renal lesions, possibly AMLs, but RCC could not be excluded. A comparison with previous MR did not show any significant progression. Due to ESKD, the patient was qualified for PE LD (mother) KT. mTORi, sirolimus, was used in IS. Creatinine at discharge was 2.1 mg/dL. Sixteen months later, MR showed significant reduction in tumor size. Two years after KT, graft function remained stable (creatinine 1.98 mg/dL). No complications related to renal lesions occurred.
mTORi are the therapy of choice in TSC patients after KT, achieving IS effect and improvement in TSC manifestations while avoiding nephrectomy and management of patients with indeterminate renal lesions, especially in the case of PE KT.
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