Zusammenfassung
Die Lymphangioleiomyomatose (LAM) ist eine der seltenen Lungenerkrankungen. Die Lunge weist dabei beidseits relativ gleich große Zysten auf, in variabler Anzahl bis hin zu einem fast kompletten zystischen Umbau. Der Erkrankung liegt eine Mosaikmutation in einem Tumorsuppressorgen (TSC2-Gen) zugrunde. Die LAM-Zellen finden am ehesten den Weg von außen in die Lunge. Veränderungen können in der Niere, im Uterus oder in den abdominellen Lymphknoten existieren. Die Erkrankung der Lunge kann Teil der tuberösen Sklerose sein, bei welcher das Gen schon in der Keimbahn mutiert ist, und muss klinisch unterschieden werden. Die proliferative und Lungengewebe zerstörende Aktivität der LAM-Zellen kann durch den mTOR-Inhibitor Sirolimus inhibiert, aber die Krankheit damit alleine nicht geheilt werden. FEV1, die Diffusionskapazität sowie das CT charakterisieren den Schweregrad ebenso wie die klinischen Einschränkungen. VEGF-D ist ein wertvoller Biomarker.
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Wirtz, H., Kirsten, D., Watz, H. (2022). Lymphangioleiomyomatose. In: Kreuter, M., Costabel, U., Herth, F.J., Kirsten, D. (eds) Seltene Lungenerkrankungen. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-63651-0_17
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