[Hereditary liver diseases].
In recent years the identification and characterization of gene defects underlying hereditary liver diseases lead to a better understanding of their pathogenesis. Heditary hemochromatosis, Wilson's disease and alpha1-antitrypsin deficiency are the most common hereditary liver diseases. While gene defects and disease manifestation may correlate, genetic testing is generally not contributing to diagnosis. This review summarizes the clinical manifestations, diagnosis and therapy of the most frequent hereditary liver diseases: hereditary hemochromatosis, Wilson's disease and alpha1-antitrypsin deficiency.
Spangenberg
H C
HC
Medizinische Universitätsklinik, Abteilung Innere Medizin II, Albert-Ludwigs-Universität, Freiburg. spangenberg@ukl.uni-freiburg.de
Rösler
K
K
Blum
H E
HE
D000465:Algorithms; D005260:Female; D006432:Hemochromatosis / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology / Q000235:genetics / Q000628:therapy; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology / Q000628:therapy; D006801:Humans; D008107:Liver Diseases / Q000235:genetics*; D016031:Liver Transplantation; D008297:Male; D009154:Mutation; D010641:Phenotype; D018962:Phlebotomy; D012307:Risk Factors; D019896:alpha 1-Antitrypsin Deficiency / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology / Q000628:therapy