Seltenere hereditäre Lebererkrankungen

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.