Mammalian target of rapamycin inhibitors in a patient with polycystic kidney disease-1-tuberous sclerosis-2 contiguous gene syndrome

Abstract EN

The mutations associated with polycystic kidney disease are closely aligned with that of tuberous sclerosis (TSC) in chromosome 16.

Occasionally, the presence of these mutations in an individual can lead to a presence of a disease phenotype with a combination of polycystic kidney disease and TSC (contiguous gene syndrome).

We present a case report of a young girl who presented with skin lesions, central nervous system tubers, and cystic disease of the kidneys.

She was treated with mammalian target of rapamycin inhibitors with a favorable outcome.