[The prevalence of Fabry's disease among male patients on hemodialysis in Lithuania (a screening study)]. / Fabry ligos paplitimas tarp hemodializuojamu ligoniu (vyru) Lietuvoje (atrankinis tyrimas).

UNLABELLED: 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. CONCLUSION: No patient with suspicion of Fabry's disease was found by this screening method.

[A study of oxidative stress markers and antioxidant system activity in the serum of hemodialysis patients]. / Oksidacinio streso zymenys ir antioksidacines sistemos aktyvumas hemodializuojamu ligoniu serume.

The aim of this study was to evaluate lipid peroxidation status and anti-oxidant defenses in chronic hemodialysis patients comparison with healthy persons (control group). Forty-six hemodialysis patients were included in the study group and 66 healthy persons in control group. We determined the plasma levels of malondialdehyde as s biomarker of oxidative stress and the concentration of ceruloplasmin and activity catalase as antioxidant defenses. Our investigation indicate that the concentration of malondialdehyde increased 1.7 times in hemodialysis patients and activity of catalase decreased in 56.2% cases. Hyperlipidemia was evaluated in 20% of patients and hypoalbuminaemia in 6.6%. Most of these patients (48.8%) were found to have a history of occlusive vascular artery disease either coronary (17.7%), cerebral (11.1%) or peripheral (15.5%) occlusive disease. In conclusion these results suggest that intensity of lipid peroxidation and decreased plasma antioxidant potential in association with hyperlipidemia and hypoalbuminaemia may contribute to the increased risk of cardiovascular disease.