Zusammenfassung
Der M. Wilson und die HFE-assoziierte Hämochromatose sind autosomal-rezessiv vererbte Stoffwechselkrankheiten der Leber. Kenntnisse hinsichtlich der aktuellen Diagnostik und Therapie sind wichtig, um die Erkrankungen zielgerichtet zu diagnostizieren und die Patienten optimal behandeln zu können. Auch wenn beide Erkrankungen selten sind, hat es in den letzten Jahren spannende neue Erkenntnisse und insbesondere beim M. Wilson verordnungsrelevante neue therapeutische Entwicklungen gegeben.
Abstract
Wilson disease and HFE-associated hemochromatosis are autosomal recessive metabolic diseases of the liver. Knowledge of current developments regarding diagnostics and therapy is relevant for correct diagnosis and optimal treatment of the patients. Even though both diseases are rare, there have been in recent years exciting new findings and new therapeutic developments, especially in Wilson disease.
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U. Merle war als Referent für die Fa. Univar tätig und erhielt hier ein Vortragshonorar.
Für diesen Beitrag wurden von der Autorin keine Studien an Menschen oder Tieren durchgeführt. Für die aufgeführten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.
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Merle, U. Neues zu Hämochromatose und M. Wilson. Gastroenterologie 18, 360–370 (2023). https://doi.org/10.1007/s11377-023-00724-0
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DOI: https://doi.org/10.1007/s11377-023-00724-0
Schlüsselwörter
- Leberzirrhose
- Stoffwechselkrankheiten
- Hepatolentikuläre Degeneration
- Genetische Variation
- Angeborene Störungen des Stoffwechsels