Effectiveness of targeted therapy for kidney damage with tuberous sclerosis in a child (clinical case)

Abstract

Tuberous sclerosis is a polysystemic, genetically determined, autosomal dominant orphan disease that affects approximately 1 in 10,000 people worldwide. Kidney damage in tuberous sclerosis is the leading cause of death due to serious complications, the most common of which is angiomyolipoma bleeding. A feature of renal angiomyolipomas is that they begin to progress and increase in volume from an early age, leading to the progression of chronic kidney disease, while angiomyolipomas more than 30 mm in diameter are at risk of bleeding. Currently, pharmacotherapy of tuberous sclerosis with mTOR inhibitors is the most effective worldwide. In this article, a clinical case of targeted therapy of tuberous sclerosis is presented, the effectiveness is demonstrated, and the features of the course of tuberous sclerosis are also given on a specific example.