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NR 7-9/2006
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Choroba Gauchera –
objawy i leczenie
Gaucher's disease – ocular
manifestation and traetment
Erita Filipek, Bronisława
Koraszewska-Matuszewska
Z Katedry i Kliniki Okulistyki Dziecięcej ¦l±skiej Akademii
Medycznej w Katowicach
Kierownik: prof. dr hab. n. med. Bronisława
Koraszewska-Matuszewska |
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| Summary: |
Gaucher’s disease is the
most common lysosomal storage disorder due to a
deficiency of glukocerebrosidase activity. It leads to
an accumulation of glukosylceramide within the cells of
the the reticuloendothelial system. Gaucher’s disease is
divided into three subtypes based on clinical symptoms.
Type I – nonneuronopathic – chronically progressive in
adulthood, type II – acute neuronopathic – infantile
form lead up to the difficult damage nervous system, and
type III – juvenile form – subacute neuronopathic. The
aim of this paper is to present the typical ocular
symptoms which occured in the disease. Gaucher’s disease
is the lysosomal storage disorder which is treated by
enzyme replacement therapy. |
| Słowa kluczowe: |
choroba Gauchera, objawy
oczne, leczenie. |
| Key words: |
Gaucher’s disease, ocular
symptoms, treatment of Gaucher’s disease. |
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