Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Definition
Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).
Also known as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome — per MONDO