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Diagnose und Therapie des Late-onset-Morbus-Pompe

Diagnosis and therapy of late onset Pompe disease

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Zusammenfassung

Der Morbus Pompe/Glykogenspeichererkrankung Typ 2 ist eine seltene Stoffwechselerkrankung, die die Lebenserwartung der Patienten deutlich reduziert. Die seit einiger Zeit zur Verfügung stehenden therapeutischen Möglichkeiten eröffnen nun jedoch Behandlungsoptionen für diese Patienten, sodass eine konsequente Diagnostik der Erkrankung zu fordern ist. Daher wurden eine internationale Literaturübersicht zu etablierten Konsensusreporten sowie publizierte Studiendaten zum Late-onset-Morbus-Pompe im Rahmen eines Delphi-Verfahrens zusammengefasst. Nach klinischer Verdachtsdiagnose hat sich als Screeningmethode der einfache und preiswerte Trockenbluttest mit Bestimmung der sauren α-Glucosidase-Aktivität bewährt. Alternativ kann aus Lymphozyten ebenfalls eine sichere Aktivitätsbestimmung durchgeführt werden. Die genetische Untersuchung des GAA-Gens sollte die Diagnose absichern. In Einzelfällen muss differenzialdiagnostisch weiterhin eine Muskelbiopsie mit Bestimmung der sauren α-Glucosidase-Aktivität und der Glykogenkonzentration durchgeführt werden. Die gesicherte Diagnose ermöglicht die interdisziplinäre symptomatische Behandlung der Krankheit mit ggf. einer Indikation zur Enzymersatztherapie.

Summary

As Pompe disease glycogen storage disease type 2 with a severely reduced life expectancy is now a treatable disorder, accurate diagnostic procedures and evidence-based indications for therapy are mandatory. We screened the literature for consensus reports and published trial data of late-onset Pompe disease. These data were summarized in a Delphi consensus method approach. The clinical suspicion of late-onset Pompe disease should be substantiated by the validated dry blood spot test measurement for acid α-glucosidase activity. Alternatively, enzyme activity analysis in lymphocytes is also feasible. Glucosidase α gene sequencing for verifying the diagnosis is recommended. A muscle biopsy including measurements of acid α-glucosidase activity and glycogen concentration is warranted for differential diagnosis in selected cases. The confirmed diagnosis should lead to a multidisciplinary treatment approach, possibly including enzyme replacement therapy.

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Einhaltung ethischer Richtlinien

Interessenkonflikt. PD Dr. Kornblum, Prof. Dr. Deschauer, Prof. Dr. Vorgerd, Dr. Schrank, Dr. Mengel, Dr. Lukacs, Prof. Dr. P. Young, Prof. Dr. Plöckinger, Prof. Dr. Schoser erhielten Referentenhonorare der Firma Genzyme, a Sanofi company, Deutschland und USA. Prof. Dr. Schoser ist Mitglied des Global Pompe advisory boards der Firma Genzyme, a Sanofi Company, USA und Mitglied des Pompe Advisory boards der Firma Biomarin LTD, USA. A. Schüller und D. Gläser: keine Angaben. Dieser Beitrag beinhaltet keine Studien an Menschen oder Tieren. Alle Patienten, die über Bildmaterial oder anderweitige Angaben innerhalb des Manuskripts zu identifizieren sind, haben hierzu ihre schriftliche Einwilligung gegeben. Im Falle von nicht mündigen Patienten liegt die Einwilligung eines Erziehungsberechtigen oder des gesetzlich bestellten Betreuers vor.

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Authors and Affiliations

  1. Friedrich-Baur-Institut, Neurologische Klinik, Klinikum der Universität München, Ziemssenstr. 1a, 80336, München, Deutschland

    A. Schüller &  B. Schoser

  2. Klinik für Neurologie, Universität Bonn, Bonn, Deutschland

    C. Kornblum

  3. Klinik für Neurologie, Universität Halle, Halle, Deutschland

    M. Deschauer

  4. Klinik für Neurologie, Universität Bochum, Bochum, Deutschland

    M. Vorgerd

  5. Deutsche Klinik für Diagnostik, Wiesbaden, Deutschland

    B. Schrank

  6. Villa Metabolicum, Universitätsklinikum Mainz, Mainz, Deutschland

    E. Mengel

  7. Interdisziplinäres Stoffwechsel-Centrum, Klinik für Kinder- und Jugendmedizin, und Institut für Klinische Chemie, Universitätsklinikum Hamburg-Eppendorf, Hamburg-Eppendorf, Deutschland

    Z. Lukacs

  8. Genetikum, Neu-Ulm, Deutschland

    D. Gläser

  9. Department für Neurologie, Klinik für Schlafmedizin und Neuromuskuläre Erkrankungen, Universitätsklinikum Münster, Münster, Deutschland

    P. Young

  10. Kompetenzzentrum Seltene Stoffwechselkrankheiten, Charité - Universitätsmedizin Berlin, Campus Virchow-Klinikum, Berlin, Deutschland

    U. Plöckinger

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  1. A. Schüller
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  2. C. Kornblum
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  3. M. Deschauer
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  4. M. Vorgerd
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  5. B. Schrank
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  6. E. Mengel
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  7. Z. Lukacs
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  8. D. Gläser
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  9. P. Young
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  10. U. Plöckinger
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  11. B. Schoser
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Corresponding author

Correspondence to B. Schoser.

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Schüller, A., Kornblum, C., Deschauer, M. et al. Diagnose und Therapie des Late-onset-Morbus-Pompe. Nervenarzt 84, 1467–1472 (2013). https://doi.org/10.1007/s00115-013-3947-9

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  • DOI: https://doi.org/10.1007/s00115-013-3947-9

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