Zusammenfassung
Das Kapitel behandelt die klinische und genetische Charakterisierung zystischer Nierenerkrankungen und hiermit assoziierter Krankheitsbilder. Im Detail werden die autosomal-dominante (ADPKD) und rezessive polyzystische Nierenerkrankung (ARPKD) sowie die heterogene Gruppe der Nephronophthisen (NPHP) und medullär-zystischen Nierenerkrankungen besprochen. Es werden zudem Syndrome mit zystischen Nierenveränderungen angesprochen, von denen viele den Ziliopathien angehören. Die aktuelle genetische Diagnostik dieser Erkrankungen wird dargestellt.
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Bergmann, C. (2016). Zystische Nierenerkrankungen und assoziierte Fehlbildungen. In: Amann, K., Kain, R., Klöppel, G. (eds) Pathologie. Pathologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-04566-0_6
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