Renal manifestation of tuberous sclerosis complex.
Am J Med Genet C Semin Med Genet
; 178(3): 338-347, 2018 09.
Article
em En
| MEDLINE
| ID: mdl-30307110
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.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Esclerose Tuberosa
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Insuficiência Renal Crônica
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Neoplasias Renais
Tipo de estudo:
Etiology_studies
Limite:
Animals
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Humans
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article