Neues zur Therapie der Tuberösen Sklerose

Zusammenfassung

Die Tuberöse Sklerose ist eine komplexe Erbkrankheit mit vielfältigen Organmanifestationen: ZNS, Nieren, Lunge, Lungen, Haut und andere. Sie beruht auf Mutationen der Tumor-Suppressor-Gene TSC1 und TSC2, was zu einer unkontrollierten Aktivierung von mTOR führt. mTOR-Inhibitoren, wie Sirolimus und Everolimus, weisen eine anti-proliferative und anti-angiomatöse Wirkung auf, weshalb sie sich als Therapieoptionen bei TSC-Patienten qualifizieren. Insbesondere zu Everolimus liegen kontrollierte Studien vor, die die Wirksamkeit bei TSC-Patienten mit SEGA und AML (und anderen Organmanifestationen) dokumentieren.

Abstract

Tuberous sclerosis complex is caused by genetically determined, decreased absent expression of the genes TSC1 and TSC2 and is characterised by the growth of tumours in different organs: CNS, kidney, lungs, heart, skin and others. Loss of appropriate TSC1-TSC2-activity leads to constitutive mTOR activation, aberrant signalling and tumour growth. Inhibition of deficient mTOR-activity with Sirolimus and Everolimus is associated with anti-proliferative effects. Therefore, Sirolimus and especially Everolimus, are attractive therapy options in TSC-patients with defined organ manifestations (SEGA, AML and others).

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