Tuberous Sclerosis Complex with Renal Involvement: Not Always a Family Matter-A Case Report
A case report
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Abstract
Background: Tuberous Sclerosis Complex (TSC) is a rare autosomal dominant neurocutaneous disease caused by mutations in the TSC1 or TSC2 tumour suppressor genes. It is characterised by hamartomatous lesions in multiple organs and displays a high degree of phenotypic variability. Renal involvement — present in 50 to 80% of patients — is a major cause of morbidity and mortality, predominantly manifesting as angiomyolipomas (AML) and renal cysts.
Case presentations: We report three unrelated patients with TSC presenting with diverse modes of revelation. Case 1: a 65-year-old man admitted for macroscopic haematuria following abdominal trauma, with incidental discovery of severe chronic renal failure, bilateral renal AMLs complicated by a right parapyelic haematoma, cardiac rhabdomyoma, retinal astrocytoma, and calcified subependymal nodules. Case 2: a 45-year-old man with a long-standing TSC diagnosis presenting for management of facial angiofibromas and stable chronic renal failure on a single kidney following prior nephrectomy. Case 3: a 14-year-old boy admitted for hypertensive emergency and advanced bilateral cystic renal failure with rapid progression to end-stage renal disease.
Diagnoses, interventions & outcomes: All three patients fulfilled the 2021 international TSC diagnostic criteria on clinical and radiological grounds, without genetic confirmation. Management included selective arterial embolisation in Case 1, ablative CO2 laser therapy and topical Sirolimus in Case 2, and emergency haemodialysis with corticosteroid therapy in Case 3. Cases 1 and 3 progressed to end-stage renal disease; Case 2 maintained stable renal function over a ten-year follow-up.
Conclusion: This case series highlights the phenotypic heterogeneity of TSC and the diversity of its renal presentations, reinforcing the importance of systematic multiorgan screening, familial investigation, and tailored multidisciplinary management.
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