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- Title
Anderson-Fabry disease in Austria.
- Authors
Lorenz, Matthias; Hauser, Anna-Christina; Püspök-Schwarz, Margot; Kotanko, Peter; Arias, Ingrid; Zodl, Herbert; Kramar, Reinhard; Paschke, Eduard; Voigtländer, Till; Sunder-Plassmann, Gere
- Abstract
Fabry disease is an X-linked inherited inborn error of glycosphingolipid catabolism. The deficiency of α-galactosidase A leads to the deposition of glycosphingolipids primarily in lysosomes of blood vessel cells. In classically affected hemizygotes clinical manifestations include pain in the extremities, vessel ectasia (angiokeratoma) in skin and mucous membranes, ophtalmological abnormalities, and hypohidrosis. As disease progresses there is renal, cardiac, cerebral and vascular involvement, with most patients experiencing renal insufficiency, cardiac hypertrophy or stroke. Many female carriers of Fabry disease also have symptoms. Recently available enzyme replacement therapy has the potential to control or even reverse disease progression. The present analysis reports on five Austrian families with Fabry disease, cared for by nephrologists in June 2002. Furthermore we discuss potential indications for enzyme replacement therapy in patients maintained on renal replacement therapy.
- Subjects
KIDNEY diseases; CHRONIC kidney failure; LYSOSOMAL storage diseases; INBORN errors of metabolism; SPHINGOLIPIDS; THERAPEUTICS
- Publication
Wiener Klinische Wochenschrift, 2003, Vol 115, Issue 7/8, p235
- ISSN
0043-5325
- Publication type
Article
- DOI
10.1007/BF03040321