title: [The prevalence of Fabry's disease among male patients on hemodialysis in Lithuania (a screening study)].
abstract: Fabry's disease is an X-linked inborn error of glycosphingolipid metabolism caused by a deficiency of the lysosomal hydrolase alpha-galactosidase A. Due to deficiency of this enzyme activity, a progressive lysosomal accumulation of glycosphingolipids, in particular globotriaosylceramide, takes place within endothelial cells and cells of the vascular and nervous systems, myocardial cells, endothelial, and mesangial and epithelial cells of the kidney, eventually leading to organ dysfunction. The degree of renal involvement generally correlates with the progression of glycosphingolipid accumulation and may lead to renal insufficiency and failure. Renal dysfunction can progress to end-stage renal failure, which usually occurs in the third to fifth decade of life. The prevalence of this disease among males on chronic hemodialysis is different in various countries. Screening for alpha-galactosidase A deficiency by blood spot tests was performed among 536 male dialysis patients in all 42 hemodialysis centers in Lithuania in the period of April-June, 2005. All tests, showed normal galactosidase A enzymatic activity.
  
  
  CONCLUSIONS
  No patient with suspicion of Fabry's disease was found by this screening method.
authors.affiliation: Department of Nephrology, Kaunas University of Medicine, Kaunas, Lithuania. nefrologijos.klinika@kmuk.lt
authors.forename: Rima
authors.initials: R
authors.lastname: Maslauskiene
authors.forename: Inga Arune
authors.initials: IA
authors.lastname: Bumblyte
authors.forename: Elvyra
authors.initials: E
authors.lastname: Sileikiene
authors.forename: Saulius
authors.initials: S
authors.lastname: Grazulis
authors.forename: Arvydas
authors.initials: A
authors.lastname: Laurinavicius
authors.forename: Mindaugas
authors.initials: M
authors.lastname: Pleckaitis
authors.forename: Dalia
authors.initials: D
authors.lastname: Alekniene
authors.forename: Rasa
authors.initials: R
authors.lastname: Dobrovolskiene
authors.forename: Vaclovas
authors.initials: V
authors.lastname: Vainauskas
authors.forename: Laima
authors.initials: L
authors.lastname: Juodeikiene
authors.forename: Ricardas
authors.initials: R
authors.lastname: Steckis
authors.forename: Marija
authors.initials: M
authors.lastname: Sakalauskiene
authors.forename: Kazimieras
authors.initials: K
authors.lastname: Macius
authors.forename: Jūrate
authors.initials: J
authors.lastname: Urbanaviciene
authors.forename: Vilma
authors.initials: V
authors.lastname: Labutiene
authors.forename: Egle
authors.initials: E
authors.lastname: Gaupsiene
authors.forename: Genovaite
authors.initials: G
authors.lastname: Ziaukiene
authors.forename: Soneta
authors.initials: S
authors.lastname: Burbaickaja
authors.forename: Jonas
authors.initials: J
authors.lastname: Gailiūnas
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D002648:Child; D000795:Fabry Disease / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology*; D006801:Humans; D008097:Lithuania / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D006435:Renal Dialysis; D012737:Sex Factors; D000519:alpha-Galactosidase / Q000097:blood
chemical_list: D000519:alpha-Galactosidase