Porphyrien

Porphyrien sind vorwiegend hereditär bedingte Stoffwechselkrankheiten der Hämbiosynthese. Die acht bekannten Enzymdefekte prägen jeweils das Muster der akkumulierten Metabolite und damit die klinische Präsentation. Dieser Beitrag bietet einen umfassenden Überblick zu Pathophysiologie, Klinik, Diagnostik und Therapie der akuten und nicht akuten Porphyrien.

Schlüsselwörter

Porphyrie - Lichtempfindlichkeit - Leberschaden - Hepatitis C - RNA-Interferenz

• Literatur

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