Zusammenfassung
Neben der primären Hämochromatose und dem M. Wilson gibt es eine Vielzahl weiterer hereditärer Lebererkrankungen. Hierzu zählen familiäre Hyperbilirubinämiesyndrome mit unkonjugierten und konjugierten Hyperbilirubinämien, cholestatische Systemerkrankungen, wie der α1-Antitrypsinmangel oder das Alagille-Syndrom, und zahlreiche Stoffwechselstörungen, wie die Galaktosämie und Porphyrien. Die klinische Relevanz reicht dabei von fehlendem Krankheitswert bis zu neonataler terminaler Leberinsuffizienz. Entsprechend erstreckt sich das therapeutische Spektrum von fehlender Behandlungsindikation über Medikamente bis zur (frühen) Lebertransplantation.
Abstract
Besides the primary form of hemochromatosis and Wilson’s disease, there are many other hereditary liver diseases. All of these are hereditary syndromes of either unconjugated or conjugated hyperbilirubinemias; cholestatic diseases, such as alpha-1 antitrypsin deficiency and Alagille syndrome; or many different metabolic diseases, including galactosemia and porphyrias. Clinically, one can see a spectrum of diseases, from those with medical irrelevance up to neonatal terminal liver insufficiency. Therefore, the therapeutic spectrum ranges from no indication for treatment, to pharmaceuticals, to (early) liver transplantation.
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Schultheiß, M., Boettler, T. & Blum, H. Seltenere hereditäre Lebererkrankungen. Gastroenterologe 3, 221–226 (2008). https://doi.org/10.1007/s11377-008-0180-3
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DOI: https://doi.org/10.1007/s11377-008-0180-3
Schlüsselwörter
- Familiäre Hyperbilirubinämiesyndrome
- Cholestatische Systemerkrankungen
- Hepatische Porphyrien
- Leberzirrhose
- Lebertransplantation