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Therapie des Dravet-Syndroms

Treatment of Dravet syndrome

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Zusammenfassung

Das Dravet-Syndrom beschreibt eine seltene, im ersten Lebensjahr beginnende und meist therapieschwierig verlaufende Epilepsieform des Kindesalters. Ursächlich sind bei ca. 80 % der Erkrankten Veränderungen des SCN1A-Gens, das für eine Untereinheit eines spannungsabhängigen Natriumkanals kodiert. Der Epilepsieverlauf erfordert meist eine medikamentöse Polytherapie, die eine differenzierte Therapiesteuerung in Bezug auf Wirksamkeit und Nebenwirkungen erfordert. Neben der Dauertherapie ist die Festlegung eines Notfallregimes aufgrund des häufigen Auftretens prolongierter Anfälle und epileptischer Status erforderlich. Komorbiditäten, psychosoziale Belastungen und sozialmedizinische Probleme sollten gleichfalls betrachtet und behandelt werden.

Abstract

The term Dravet syndrome describes a rare and difficult to treat form of childhood epilepsy that usually starts in the first year of life. In approximately 80% of the cases it is caused by mutations in the SCN1A gene that codes for a subunit of a voltage-gated sodium channel. The course of the epilepsy mostly requires a pharmaceutical polytherapy, which necessitates a differentiated treatment control and continuous monitoring of treatment response as well as possible adverse effects. Due to the frequent occurrence of prolonged seizures and status epilepticus, a home management plan for the application of rescue medication is required in addition to the permanent treatment. The necessary multidisciplinary care addresses comorbidities, psychosocial burdens and sociomedical problems of patients and their families.

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Authors and Affiliations

  1. DRK-Norddeutsches Epilepsiezentrum für Kinder und Jugendliche, Henry-Dunant-Str. 6–10, 24223, Schwentinental-Raisdorf, Deutschland

    Sarah von Spiczak & Ulrich Stephani

  2. Klinik für Kinder- und Jugendmedizin II – Neuropädiatrie und Sozialpädiatrie, Universitätsklinikum Schleswig-Holstein, Campus Kiel, Kiel, Deutschland

    Sarah von Spiczak & Ulrich Stephani

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  1. Sarah von Spiczak
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  2. Ulrich Stephani
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Correspondence to Sarah von Spiczak.

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S. von Spiczak hat Beratungs- und Vortragshonorare sowie Reisekostenerstattungen der Firmen Eisai GmbH, Desitin Arzneimittel GmbH und BIAL erhalten. U. Stephani hat Beratungs- und Vortragshonorare sowie Reisekostenerstattungen der Firmen Eisai GmbH, Desitin Arzneimittel GmbH, Zogenix, Inc. und BIAL erhalten.

Dieser Beitrag beinhaltet keine von den Autoren durchgeführten Studien an Menschen oder Tieren.

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von Spiczak, S., Stephani, U. Therapie des Dravet-Syndroms. Z. Epileptol. 32, 107–115 (2019). https://doi.org/10.1007/s10309-018-0236-4

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