Kidney nontumor
Developmental and cystic diseases
Tuberous sclerosis

Topic Completed: 31 October 2019

Minor changes: 6 November 2019

Copyright: 2019,, Inc.

PubMed Search: Tuberous sclerosis developmental and cystic diseases

Nat Pernick, M.D.
Page views in 2019: 247
Page views in 2020 to date: 754
Cite this page: Pernick N. tuberous sclerosis. website. Accessed May 28th, 2020.
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)
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