Das Conn-Syndrom, der Hyperaldosteronismus, der sich im Laufe des Lebens entwickeln kann, beruht häufig auch auf somatischen Mutationen in den Nebennierenadenomen.
Unterschieden werden können zwei arten von durch somatische Mutationen initierter Hyperaldosteronismus. (1) Beim APCC (aldosterone-producing cell clusters) befinden sich subkapsulär Zellcluster die eine erhöhte Hormonproduktion aufweisen. Diese Nebennieren erscheinen grobmorphologisch normal. (2) Im Unterschied zu den Aldosteron produzierenden Adenomen (APA). bei beiden Formen sind unterschiedliche Gene mutiert.
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Scholl UI et al. (2012) Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5. |
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OMIM.ORG article Omim 600734 |
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Wikipedia Artikel Wikipedia DE (Primärer_Hyperaldosteronismus) |