Sclérose tubéreuse de Bourneville : mise au point

PFIRMANN, P; COMBE, Christian; RIGOTHIER, Claire

doi:10.1016/j.revmed.2021.03.003

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PFIRMANN, P

COMBE, Christian

Bioingénierie tissulaire [BIOTIS]

RIGOTHIER, Claire

Bioingénierie tissulaire [BIOTIS]

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Article de revue

Ce document a été publié dans

La Revue De Médecine Interne. 2021-10-01, vol. 42, n° 10, p. 714-721

Résumé en anglais

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects different organs and caused by loss-of-function mutations in one of two genes: TSC1 or TSC2. TSC1 or TSC2 gene mutation lead to dysfunction of hamartin or tuberin, respectively. Hamartin and tuberin form a protein complex that helps regulate cellular proliferation. These proteins form a complex that constitutively inhibits the mammalian target of rapamycin (mTOR) signaling pathway, leading to permanent activation of mTOR signaling within all TSC-associated lesions. Major features of TSC include tumors of the brain, skin, heart, lungs and kidneys, seizures and TSC-associated neuropsychiatric disorders, which can include autism spectrum disorder and cognitive disability. These disorders are usually diagnosed in children and adults. Specific guidelines for diagnosis, surveillance, and management have been proposed by the International Tuberous Sclerosis Complex Consensus Group. Several randomized controlled trials led to regulatory approval of the use of mTOR inhibitors for the treatment of renal angiomyolipomas, brain subependymal giant cell astrocytomas, refractory epilepsy and pulmonary lymphangioleiomyomatosis.< Réduire

Mots clés en anglais

Autism Spectrum Disorder

Humans

Lymphangioleiomyomatosis

Tuberous Sclerosis

Tuberous Sclerosis Complex 2 Protein

Tumor Suppressor Proteins

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