Clinical heterogeneity in Fabry disease
https://doi.org/10.17650/2222-8721-2015-5-4-39-45
Abstract
Fabry disease is an X-linked, lysosomal storage disease (OMIM: 301500), caused by α-galactosidase A deficiency, resulting in accumulation of its substrates, glycosphingolipids, primarily – globotriaosylceramide, in the lysosomes of multiple cell types with multi-system clinical manifestations, even within the same family, including abnormalities of the central and peripheral nervous system, kidneys, heart, gastrointestinal tract, lungs, organ of vision. Clinical heterogeneity is often the reason of the delayed diagnosis. Nowadays enzyme replacement therapy has proved its efficiency in the treatment of Fabry disease. Including Fabry disease in the differential diagnosis of a large range of disorders is important because of its wide clinical heterogeneity and the possibility of an earlier intervention with a beneficial treatment.
About the Author
G. N. Salogub
Head of the department of the internal medicine, Federal State Budgetary Research Institution “V. A. Almazov North-western medical research center”; 2 Akkuratova St., St. Petersburg, 197341, Russia
Russian Federation
Russian Federation
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Review
For citations:
Salogub G.N. Clinical heterogeneity in Fabry disease. Neuromuscular Diseases. 2015;5(4):39-45. (In Russ.) https://doi.org/10.17650/2222-8721-2015-5-4-39-45
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