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DOI: 10.1055/s-0028-1109958
© Georg Thieme Verlag KG Stuttgart · New York
Lysosomale Speichererkrankungen – Update und neue therapeutische Optionen
Lysosomal Storage Diseases – Update and New Therapeutic OptionsPublication History
Eingegangen: 24.6.2009
Angenommen: 26.11.2009
Publication Date:
22 March 2010 (online)

Zusammenfassung
Lysosomale Speichererkrankungen repräsentieren eine Gruppe von über 50 genetisch bedingten Erkrankungen. Durch einen genetischen Defekt eines lysosomalen Enzyms oder Aktivatorproteins kommt es zur Akkumulation spezifischer Substrate mit konsekutiv z. T. schwersten Funktionsstörungen verschiedener Organsysteme. Lysosomale Speichererkrankungen sind derzeit nicht heilbar. Aufgrund ihres progredienten Verlaufs weisen viele von ihnen eine dramatische Morbidität und Mortalität auf, eine möglichst frühzeitige Behandlung zur Erhaltung wesentlicher Körperfunktionen ist essenziell. Während lange Zeit als alleinige therapeutische Option die symptomatische Therapie zur Verfügung stand, stellen der Ersatz des fehlenden lysosomalen Enzyms (ERT) bzw. die Substratreduktion kausale Therapieansätze dar. Viele lysosomale Speichererkrankungen sind durch pathognomonische Augenbefunde gekennzeichnet. Insofern bietet die ophthalmologische Untersuchung die Möglichkeit einer frühzeitigen und nicht invasiven Diagnostik, sodass ggf. eine wirksame Therapie frühzeitig eingeleitet werden kann. Diese Zusammenfassung soll einen Überblick über die geläufigsten Speichererkrankungen insbesondere in Hinblick auf ophthalmologische Veränderungen geben sowie neue therapeutische Ansätze näher erläutern.
Abstract
Lysosomal storage diseases represent a group of about 50 genetic disorders. The deficiencies of lysosomal and non-lysosomal proteins cause an accumulation of compounds which are normaly degraded within the lysosome. There are currently no therapeutic options to cure patients suffering from a lysosomal storage disease. Due to their progressive nature there is considerable morbidity and mortality. Thus, an early treatment to maintain major systemic functions is of utmost importance. While so far only symptomatic therapies are in use, the newly available enzyme replacment therapies offer a real causal approach for selected storage diseases. Many of these disorders are characterised by pathognomonic eye findings. Therefore, the ophthalmological examination provides the opportunity for an early and non-invasive diagnosis and a chance to initiate early treatment. This review is intended to give a survey of the most common lysosomal storage diseases, particularly with regard to ophthalmological changes as well as illustrate new therapeutic options.
Schlüsselwörter
Kinderophthalmologie - Genetik - lysosomale Speichererkrankung
Key words
paediatric ophthalmology - genetics - lysosomal storage diseases
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Dr. Kilian Schöpfer
Augenklinik und Poliklinik, Universitätsmedizin Mainz
Langenbeckstr. 1
55131 Mainz
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Email: schoepfer@augen.klinik.uni-mainz.de