Vol. 30-31/2021-2022 Nr 60
okładka czasopisma Child Neurology
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NEUROLOGIA DZIECIĘCA

Pismo Polskiego Towarzystwa Neurologów Dziecięcych

PL ISSN 1230-3690
e-ISSN 2451-1897
DOI 10.20966
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Stwardnienie guzowate: postępy w diagnostyce i leczeniu


Tuberous sclerosis complex: advances in diagnosis and management




Klinika Neurologii i Epileptologii Instytutu "Pomnik-Centrum Zdrowia Dziecka" w Warszawie

Neurol Dziec 2008; 17, 33: 11-22
Pełen tekst artykułu PDF Stwardnienie guzowate: postępy w diagnostyce i leczeniu



STRESZCZENIE
Stwardnienie guzowate (SG) jest schorzeniem polegającym na powstawaniu zmian typu hamartoma w różnych narządach: skórze, mózgu, sercu, płucach, nerkach i wątrobie. Dziedziczy się autosomalnie dominująco. 70% przypadków stanowią mutacje sporadyczne, 30% przypadki rodzinne. Za występowanie objawów choroby odpowiedzialna jest mutacja jednego z dwóch genów supresorowych nowotworów TSC1 lub TSC2. Artykuł omawia kryteria diagnostyczne, zwracając szczególną uwagę na najwcześniej pojawiające się zmiany i możliwości diagnostyki prenatalnej. W części poświęconej leczeniu nacisk położono na skuteczne leczenie padaczki i zapobieganie rozwojowi upośledzenia umysłowego oraz próby leczenia zmian narządowych za pomocą rapamycyny.

Słowa kluczowe: stwardnienie guzowate, mTOR, mnogie guzy serca, padaczka, opóźnienie rozwoju umysłowego, rapamycyna


ABSTRACT
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome characterized by the development of multiple hamartomas in many organs: skin, brain, heart, lungs, kidneys and liver. About 70% patients represent sporadic mutation, 30% are familly cases. Mutation in one of two tumour suppressor genes: TSC1 or TSC2 is responsible for clinical manifestation. This article discusses clinical criteria, paying special attention to the earliest manifestation and possibilities of prenatal diagnosis. This article also higlights the importance of efficacious treatment of epilepsy in prevention of mental retardation. Special attention is paid to clinical trials with rapamycin.

Key words: tuberous sclerosis complex, mTOR, multiple cardiac rhabdomyoma, epilepsy, mental retardation, rapamycin


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