Renal cystic disease in tuberous sclerosis complex

Prashant Kumar, Fahad Zadjali, Ying Yao, John J. Bissler*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

2 Citations (Scopus)

Abstract

Tuberous sclerosis complex (TSC) is associated with TSC1 or TSC2 gene mutations resulting in hyperactivation of the mTORC1 pathway. This mTORC1 activation is associated with abnormal tissue development and proliferation such that in the kidney there are both solid tumors and cystic lesions. This review summarizes recent advances in tuberous sclerosis complex nephrology and focuses on the genetics and cell biology of tuberous sclerosis complex renal disease, highlighting a role of extracellular vesicles and the innate immune system in disease pathogenesis.

Original languageEnglish
Pages (from-to)2111-2117
Number of pages7
JournalExperimental Biology and Medicine
Volume246
Issue number19
DOIs
Publication statusPublished - Oct 2021
Externally publishedYes

Keywords

  • cell nonautonomous trait
  • extracellular vesicles
  • renal cysts
  • Tuberous sclerosis complex

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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