Journal of Okayama Medical Association
Published by Okayama Medical Association

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Full-text articles are available 3 years after publication.

ファブリー病を疑われる一症例の生化学的同定について

Fujii, Junko
Kiguchi, Kenichiro
Nagata, Akihide
Hirai, Yoshikazu
Kanemasa, Yasuhiro
Kobayashi, Jun
95_35.pdf 1.83 MB
Abstract
Fabry's disease is one of the inherited diseases, in which sphingoglycolipids accumulate systemically in tissue as the result of defective α-galactosyl hydrolase. In this paper, we studied a 54 year-old female who had complaints of leg pain, palpebral edema and telangiectasis and in whom foam cells in renal biopsy as well as proteinuria in urinalysis were revealed. As an increase of sphingoglycolipids was discovered in her urinary sediment by biochemical analysis, this patient was shown to be suffering from Fabry's disease.
Keywords
Fabry's disease
Lipidosis
Hexosyl ceramide
Hereditary disease
ISSN
0030-1558
NCID
AN00032489