Renal manifestation of tuberous sclerosis complex

John Bissler, J. Christopher Kingswood

Research output: Contribution to journalReview article

1 Citation (Scopus)

Abstract

Tuberous sclerosis complex (TSC) is a tumor predisposition syndrome with significant renal cystic and solid tumor disease. It commonly causes several types of cystic disease and benign tumors (angiomyolipomata) in the kidneys that can both lead to significant premature loss of glomerular filtration rate. The main risks of angiomyolipomata, severe bleeding, loss of renal function, and pulmonary lymphangioleiomyomatosis, can be ameliorated by active surveillance and preemptive therapy with mTOR inhibitors. The cystogenic mechanism may involve primary cilia, but also appears to also involve a majority of normal tubular cells and may be driven by a minority of cells with mutations inactivating both their TSC1 or TSC2 genes. Malignant tumors are rare.

Original languageEnglish (US)
Pages (from-to)338-347
Number of pages10
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Volume178
Issue number3
DOIs
StatePublished - Sep 1 2018

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Tuberous Sclerosis
Kidney
Angiomyolipoma
Neoplasms
Lymphangioleiomyomatosis
Cilia
Glomerular Filtration Rate
Hemorrhage
Lung
Mutation
Genes
Therapeutics

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Renal manifestation of tuberous sclerosis complex. / Bissler, John; Christopher Kingswood, J.

In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Vol. 178, No. 3, 01.09.2018, p. 338-347.

Research output: Contribution to journalReview article

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