Zusammenfassung
Der Morbus Fabry ist eine angeborene Stoffwechselkrankheit aus
der Gruppe der lysosomalen Speicherkrankheiten. Ursächlich
liegt der Erkrankung ein Mangel des Enzyms α-Galaktosidase
A zu Grunde. Folge ist die Akkumulation von Globotriaosylceramid
in nahezu allen Zellen des Körpers. Aufgrund einer progredienten
Schädigung einer Vielzahl von Organen resultiert ein Funktionsverlust
betroffener Organe. Angiokeratome, Akroparästhesien, Proteinurie,
Hornhauttrübung und gastrointestinale Beschwerden manifestieren
sich häufig bereits in der Kindheit. Mit zunehmendem Alter
treten kardiale (Kardiomyopathie), renale (progrediente Niereninsuffizienz)
und zentralnervöse Manifestationen (TIA/Apoplex)
stärker in den Vordergrund. Unbehandelt sterben die Betroffenen
mit ca. 55 (Männer) bzw. 70 Jahren (Frauen). Seit 2001
existiert eine kausale Behandlungsmöglichkeit für
den M. Fabry in Form der Enzymersatztherapie. Die Prognose der Patienten
dürfte damit entscheidend von einer frühzeitigen
Diagnose und Therapie abhängen. Immer noch beträgt
aber die Zeitspanne zwischen dem Auftreten erster Symptome und der
Diagnosestellung durchschnittlich 13 Jahre. Mit der vorliegenden
Arbeit wird das variable klinische Bild des M. Fabry übersichtsartig
zusammengestellt, und es wird eine Anleitung zur rationalen Diagnose
und Therapie des M. Fabry gegeben.
Abstract
Fabry disease is an inherited metabolic disease, and one of several
lysosomal storage diseases. Basis of the disease is the deficiency
of α-galactosidase A. Consequence of this deficiency is
the accumulation of globotriaosylceramide in virtually all cells
of the body. Affected organs cannot fulfil their function but will
be progressively damaged. Often, angiokeratoma, acroparaesthesia,
proteinuria, corneal clouding and gastrointestinal complaints become
manifest in childhood already. With age, cardiac (cardiomyopathy),
renal (progressive renal insufficiency) and central-nervous manifestations
(TIA/stroke) come to the fore. Untreated patients die at
the age of approximately 55 years (males) and 70 years (Frauen),
respectively. Since 2001 a causal treatment for Fabry disease is
available in the form of enzyme replacement therapy. By then, prognosis
may primarily depend on an early diagnosis and timely therapy. Nevertheless,
the mean time between onset of symptoms and diagnosis has been reported
to be 13 years. The present report reviews the variable clinical
manifestations of Fabry disease, and offers rationale guidance for
diagnosis and therapy.
Schlüsselwörter
lysosomale Speicherkrankheit - Enzymersatztherapie - Globotriaosylceramid/Gb3 - α-Galaktosidase A - GLA-Gen
Key words
lysosomal storage disease - enzyme replacement therapy - globotriaosylceramide/Gb3 - α-galactosidase A - GLA-Gene
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Dr. Björn Hoffmann
Klinik für Allgemeine Pädiatrie, Universitätsklinikum
Düsseldorf, Heinrich-Heine-Universität
Moorenstr. 5
40225 Düsseldorf
Phone: 0211/81-17687
Fax: 0211/81-19786
Email: hoffmann@med.uni-duesseldorf.de
