Tuberous sclerosis complex renal disease

Nephron Exp Nephrol. 2011;118(1):e15-20. doi: 10.1159/000320891. Epub 2010 Nov 11.

Abstract

Although not as common as other genetic renal diseases such as autosomal dominant polycystic kidney disease, patients with tuberous sclerosis complex frequently have significant renal involvement. Recent revelations in the cell biology of these renal disease manifestations as well as effective therapies for tuberous sclerosis complex-related renal issues have heralded hope of improved renal survival and improved quality of life for the TSC patient. This review specifically addresses some of the major renal manifestations of this disease.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Review

MeSH terms

  • Angiomyolipoma / etiology
  • Humans
  • Kidney Diseases, Cystic / etiology
  • Kidney Neoplasms / etiology
  • Mutation / genetics
  • Nephrolithiasis / etiology
  • Tuberous Sclerosis / complications*
  • Tuberous Sclerosis / genetics
  • Tuberous Sclerosis / physiopathology*
  • Tuberous Sclerosis Complex 1 Protein
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins / genetics

Substances

  • Tuberous Sclerosis Complex 1 Protein
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins