Medizinische Universität Graz - Research portal
Selected Publication:
Lorenz, M; Hauser, AC; Püspök-Schwarz, M; Kotanko, P; Arias, I; Zodl, H; Kramar, R; Paschke, E; Voigtländer, T; Sunder-Plassmann, G.
Anderson-Fabry disease in Austria.
Wien Klin Wochenschr. 2003; 115(7-8):235-240
Doi: 10.1007/BF03040321
(- Case Report)
Web of Science
PubMed
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- Co-authors Med Uni Graz
- Paschke Eduard
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- Abstract:
- Fabry disease is an X-linked inherited inborn error of glycosphingolipid catabolism. The deficiency of alpha-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, ophthalmological 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Adult -
- Biopsy -
- Chromosomes, Human, X -
- Diagnosis, Differential -
- Fabry Disease - diagnosis
- Genes, Recessive - genetics
- Heterozygote Detection - genetics
- Humans - genetics
- Isoenzymes - adverse effects
- Kidney - pathology
- Male - pathology
- Middle Aged - pathology
- Pedigree - pathology
- Prognosis - pathology
- Recombinant Proteins - adverse effects
- Renal Dialysis - adverse effects
- Sex Chromosome Aberrations - adverse effects
- alpha-Galactosidase - adverse effects
- Find related publications in this database (Keywords)
- lysosomal storage diseases
- Fabry disease
- enzyme replacement therapy
- end-stage renal disease