[Gaucher's disease in a 22-year-old female patient].
Gaucher's disease is a sphingolipidosis with a genetically conditioned deficiency of cerebroside-beta-glucosidase which can be encountered in everyday practice and not only in paediatrics. The authors submit the case-history of a 22-year-old Ukrainian patient with a fully developed type 1 Gaucher disease, and a brief review of the diagnostic and therapeutic possibilities. Due to the more extensive migration of the population on the territory of the Czech Republic a more frequent occurrence of the disease can be envisaged.
Gaja
A
A
Masarykův onkologický ústav, Brno.
Hejlová
N
N
Churý
Z
Z
Franková
H
H
D000328:Adult; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis*; D006801:Humans