[The prevalence of Fabry's disease among male patients on hemodialysis in Lithuania (a screening study)].
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.
Maslauskiene
Rima
R
Department of Nephrology, Kaunas University of Medicine, Kaunas, Lithuania. nefrologijos.klinika@kmuk.lt
Bumblyte
Inga Arune
IA
Sileikiene
Elvyra
E
Grazulis
Saulius
S
Laurinavicius
Arvydas
A
Pleckaitis
Mindaugas
M
Alekniene
Dalia
D
Dobrovolskiene
Rasa
R
Vainauskas
Vaclovas
V
Juodeikiene
Laima
L
Steckis
Ricardas
R
Sakalauskiene
Marija
M
Macius
Kazimieras
K
Urbanaviciene
Jūrate
J
Labutiene
Vilma
V
Gaupsiene
Egle
E
Ziaukiene
Genovaite
G
Burbaickaja
Soneta
S
Gailiūnas
Jonas
J
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
D000519:alpha-Galactosidase