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Renal manifestation of tuberous sclerosis complex
Author(s) -
Bissler John J.,
Christopher Kingswood J.
Publication year - 2018
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31654
Subject(s) - tuberous sclerosis , lymphangioleiomyomatosis , tsc1 , tsc2 , medicine , renal function , cilium , pathology , loss function , disease , sirolimus , cancer research , pi3k/akt/mtor pathway , biology , phenotype , gene , signal transduction , biochemistry , microbiology and biotechnology
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.