Zusammenfassung
Der M. Fabry ist eine vererbte, lysosomale Speichererkrankung mit klinischer Manifestation in vielen Organsystemen. In der Neurologie kann er seltene Ursache und Differenzialdiagnose häufiger Krankheitsbilder mit Symptomen des zentralen und/oder peripheren Nervensystems sein. Eine zeitnahe Diagnose und Therapie sind wichtig, um Symptome zu lindern, irreversible Organschäden zu vermeiden und letztlich Lebenserwartung und -qualität der Betroffenen zu verbessern.
Abstract
Fabry disease is an inherited lysosomal storage disorder with clinical manifestation in various organ systems. In neurology, Fabry disease is a rare cause and differential diagnosis of frequent disorders of central and peripheral nervous origin. Timely diagnosis and therapy are essential to improve symptoms and prevent irreversible organ damage and thereby increase life expectancy and quality of life for the patients.
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T. Böttcher: A. Finanzielle Interessen: Vortragshonorare und Reisekostenerstattung: Takeda, Sanofi-Genzyme, Amicus, Centogene. – Beratungstätigkeit: Takeda, Sanofi-Genzyme, Amicus, Beratungstätigkeit, interner Schulungsreferent, Angestellter 01–06/2017: Centogene, interner Schulungsreferent: „infusion at home“. – Aktien: Centogene. – B. Nichtfinanzielle Interessen: Chefarzt, Klinik für Neurologie, Neubrandenburg, bis 12/2016, „Senior Director Medical Processes“, Centogene AG, Rostock, 01–06/2017, angestellter Facharzt für Neurologie, MVZ der Johanna-Odebrecht-Stiftung, Greifswald, seit 07/2017 | Mitgliedschaften: Deutsche Gesellschaft für Neurologie (DGN), Deutsche Gesellschaft für klinische Neurophysiologie, Deutsche Gesellschaft für Liquordiagnostik, Vorsitzender der Gesellschaft für Nervenheilkunde Mecklenburg-Vorpommern. T. Duning: A. Finanzielle Interessen: Forschungsgelder: Genzyme, Shire, Actelion, finanzielle Unterstützung zur Durchführung von Demenzstudien: Novartis, Merz Pharma. – Kongressgebühren, Reisekostenerstattung und Vortragshonorare: Genzyme, Shire, Bristol-Myers Squibb, Boehringer-lngelheim Pharma, Sanofi Aventis, Wisai, Novartis, Bayer Vital, Merz Pharma, Merck, Actelion, Lundbeck, Chiesi. – Beraterhonorare: Genzyme, Shire, Sanofi Aventis, Wisai, Novartis, Merz Pharma, Actelion, Chiesi, Roche. – B. Nichtfinanzielle Interessen: Chefarzt, Klinik für Neurologie, Klinikum Bremen-Ost | Mitgliedschaften: DGN, DSG (Deutsche Schlaganfall-Gesellschaft), DGKN.
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Böttcher, T., Duning, T. Morbus Fabry in der Neurologie. DGNeurologie 4, 205–215 (2021). https://doi.org/10.1007/s42451-021-00339-1
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DOI: https://doi.org/10.1007/s42451-021-00339-1