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Systemerkrankungen mit Herzbeteiligung

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Pädiatrische Kardiologie

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Zusammenfassung

Bei den lysosomalen Speichererkrankungen handelt es sich um angeborene Störungen des Abbaus der Heteroglykane (Mukopolysaccharidosen, Mukolipidosen, Glykoproteinosen) oder komplexer, fettsäurehaltiger Makromoleküle (Lipidosen). Die Enzymdefizienz führt bei den Heteroglykanosen zur Ablagerung von Substraten oder unvollständigen Abbauprodukten in Gehirnhäuten, Neuronen, Knochen, Knorpel, aber auch Herzklappen und Gefäßintima mit sehr unterschiedlichen Krankheitsbildern, die jedoch meist mit typischen Skelettveränderungen (Dystostosis multiplex) einhergehen. Die Ablagerungen bei den Lipidosen betreffen entweder die Nervenzellen (Gangliosidosen, Lipofuszinosen, Spingomyelinosen) oder das Gehirnmark (Leukodystrophien). Mit zwei Ausnahmen werden die lysosomalen Speichererkrankungen autosomal rezessiv vererbt, lediglich die Mukopolysaccharidose Typ 2 (Hunter) und der Morbus Fabry sind x-chromosomal gebunden. Allele Mutationen führen zu verschiedenen Krankheitsformen; je nach Restaktivität des defekten Enzyms sind zudem unterschiedliche frühe und schwere Manifestationen möglich.

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Authors
  1. L. Sieverding
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Editors and Affiliations

  1. Lehrstuhl für Kinderkardiologie, Neuklinikum der Universität, Hoppe-Seyler-Str. 3, 72076, Tübingen, Deutschland

    Jürgen Apitz (Ärztlicher Direktor der Abteilung Kinderheilkunde II mit Poliklinik) (Ärztlicher Direktor der Abteilung Kinderheilkunde II mit Poliklinik)

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© 1998 Springer-Verlag Berlin Heidelberg

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Sieverding, L. (1998). Systemerkrankungen mit Herzbeteiligung. In: Apitz, J. (eds) Pädiatrische Kardiologie. Steinkopff, Heidelberg. https://doi.org/10.1007/978-3-642-53754-7_12

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  • DOI: https://doi.org/10.1007/978-3-642-53754-7_12

  • Publisher Name: Steinkopff, Heidelberg

  • Print ISBN: 978-3-642-53755-4

  • Online ISBN: 978-3-642-53754-7

  • eBook Packages: Springer Book Archive

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