Anderson-Fabry disease in Austria.

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.
AuthorsMatthias Lorenz, Anna-Christina Hauser, Margot Püspök-Schwarz, Peter Kotanko, Ingrid Arias, Herbert Zodl, Reinhard Kramar, Eduard Paschke, Till Voigtländer, Gere Sunder-Plassmann
JournalWiener klinische Wochenschrift (Wien Klin Wochenschr) Vol. 115 Issue 7-8 Pg. 235-40 (Apr 30 2003) ISSN: 0043-5325 [Print] Austria
PMID12778775 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Isoenzymes
  • Recombinant Proteins
  • agalsidase alfa
  • agalsidase beta
  • alpha-Galactosidase
  • Adult
  • Biopsy
  • Chromosomes, Human, X
  • Diagnosis, Differential
  • Fabry Disease (diagnosis, drug therapy, genetics)
  • Genes, Recessive (genetics)
  • Heterozygote Detection
  • Humans
  • Isoenzymes (adverse effects, therapeutic use)
  • Kidney (pathology)
  • Male
  • Middle Aged
  • Pedigree
  • Prognosis
  • Recombinant Proteins (adverse effects, therapeutic use)
  • Renal Dialysis
  • Sex Chromosome Aberrations
  • alpha-Galactosidase (adverse effects, therapeutic use)

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