Renal Symptoms in Tuberous Sclerosis
Tuberous sclerosis is a multi-systemic disorder caused by mutation in TSC1 or TSC2 gene. It is an autosomal dominant genetic disorder. Renal system is also affected in tuberous sclerosis. Common disorders of kidneys that are associated with tuberous sclerosis are renal angiomyolipomas, renal cysts, and renal failure. In case of tuberous sclerosis with renal involvement, the patient may present with: - Pain in flank - Hypertension - Hematuria - Bleeding - Hemorrhagic shock Reference: https://emedicine.medscape.com/article/951002-clinical#:~:text=Ash%2Dleaf%20spots%20are%20hypomelanotic,major%20diagnostic%20criteria%20for%20TSC. Image via: https://www.auanet.org/education/auauniversity/education-products-and-resources/pathology-for-urologists/kidney/mesenchymal-and-other-tumors/renal-angiomyolipoma