Therapy of Tuberous Sclerosis Complex (TSC): An Update

被引：1
|
作者：
Knuf, M. [1 ]
Bach, A. [1 ]
Lampe, C. [1 ]
机构：
[1] Dr Horst Schmidt Kliniken, Klin Kinder & Jugendliche, Tuberose Sklerose Zentrum, Wiesbaden, Germany
来源：
AKTUELLE DERMATOLOGIE | 2013年 / 39卷 / 03期
关键词：
D O I：
10.1055/s-0032-1326376
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
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).
引用
收藏
页码：74 / 78
页数：5
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