Kidney nontumor

Developmental & cystic diseases

Tuberous sclerosis

Topic Completed: 31 October 2019

Minor changes: 30 September 2020

Copyright: 2019-2021,, Inc.

PubMed Search: Tuberous sclerosis developmental and cystic diseases

Nat Pernick, M.D.
Page views in 2020: 2,065
Page views in 2021 to date: 2,767
Cite this page: Pernick N. Tuberous sclerosis. website. Accessed December 8th, 2021.
Definition / general
  • TSC2 / PKD1 contiguous gene syndrome: both kidneys are enlarged and cystic, have classic angiomyolipomas and rare intraglomerular microlesions (Am J Surg Pathol 2002;26:198)
  • Caused by alterations of TSC1 gene (9q34, encodes hamartin) and TSC2 gene (16p13.3, encodes tuberin, which interacts with hamartin)
Clinical features
  • Patients suffer intellectual disability and infantile / childhood seizures
  • 60 - 70% of tuberous sclerosis cases are sporadic (OMIM - 191100)
  • Patients with tuberous sclerosis present at younger age, tumors are usually larger and more often bilateral (Urology 2008;72:1077)
Back to top
Image 01 Image 02