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
Phone: ++ 49/61 31/17 70 85
Fax: ++ 49/61 31/17 66 20
Email: schoepfer@augen.klinik.uni-mainz.de
