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.
Lorenz
Matthias
M
Division of Nephrology and Dialysis, Department of Medicine III, University of Vienna, Vienna. Matthias.Lorenz@akh-wien.ac.at
Hauser
Anna-Christina
AC
Püspök-Schwarz
Margot
M
Kotanko
Peter
P
Arias
Ingrid
I
Zodl
Herbert
H
Kramar
Reinhard
R
Paschke
Eduard
E
Voigtländer
Till
T
Sunder-Plassmann
Gere
G
D000328:Adult; D001706:Biopsy; D041321:Chromosomes, Human, X; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics; D006580:Genetic Carrier Screening; D006801:Humans; D007527:Isoenzymes / Q000009:adverse effects / Q000627:therapeutic use*; D007668:Kidney / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011379:Prognosis; D011994:Recombinant Proteins / Q000009:adverse effects / Q000627:therapeutic use; D006435:Renal Dialysis; D012729:Sex Chromosome Aberrations; D000519:alpha-Galactosidase / Q000009:adverse effects / Q000627:therapeutic use*
D007527:Isoenzymes; D011994:Recombinant Proteins; D000519:alpha-Galactosidase; C459420:agalsidase beta