Hormonal profile and fertility in patients with Anderson-Fabry disease.

Anderson-Fabry disease is a glycosphingolipid storage disorder with an X-linked recessive inheritance. The alpha-galactosidase A deficiency leads to a progressive accumulation of globotriaosylceramide in the endothelium and tissue cells of various organs. The kidney, heart and brain are predominantly affected. Reports on endocrine function and fertility rates in patients with Anderson-Fabry disease are sparse. In the present study, we assessed ovarian, testicular and adrenal function in a cohort of patients with Anderson-Fabry disease. Plasma follicle-stimulating hormone, luteinizing hormone, prolactin, estradiol, testosterone, sex hormone-binding globulin, somatotropin, insulin-like growth factor-I and serum cortisol were measured in 13 patients (six female and seven male), currently observed in an outpatient clinic. The profile revealed an undisturbed hormonal function and a normal fertility rate in both male and female Anderson-Fabry patients when compared with the corresponding Austrian population.

Incidence of stroke among chronic hemodialysis patients with nonrheumatic atrial fibrillation.

In general, nonrheumatic atrial fibrillation is associated with a high risk of stroke. However, its impact on stroke in the setting of chronic hemodialysis treatment is insufficiently addressed in the literature. We assessed the incidence of stroke among 430 chronic hemodialysis patients and the impact of atrial fibrillation and various other potential risk factors on stroke in a retrospective study covering 1,111.16 patient-years. The overall incidence of stroke was 3.78/100 patient-years. Among patients with chronic atrial fibrillation without any antithrombotic therapy besides regular dialysis anticoagulation, the stroke incidence was 1.0/100 patient-years and did not differ statistically significantly from the rate among patients without this arrhythmia, in whom the incidence was 2.8/100 patient-years (p = 0.220). Conversely, the overall rate of stroke incidence per 100 patient-years was statistically significantly higher in patients with diabetic nephropathy (6.46, p = 0.0036), age > 65 years (5.90, p = 0.0001), moderate to severe hypertension (6.8, p = 0.0017), weight gain of > 2 kg between dialyses as a marker of poor patient compliance (6.47, p = 0.0433), and antithrombotic therapy with salicylates or warfarin (8.33, p = 0.0002), as compared with corresponding groups without these risk factors. Our data suggest that in contrast to other risk factors nonrheumatic atrial fibrillation in itself is not associated with an increased risk of stroke in patients on maintenance hemodialysis treatment.

Prevalence of preterminal pulmonary thromboembolism among patients on maintenance hemodialysis treatment before and after introduction of recombinant erythropoietin.

The prevalence of pulmonary thromboembolism at autopsy was assessed in a retrospective study of a cohort of 185 patients undergoing maintenance hemodialysis treatment who died in the last decade. The overall frequency of thromboembolism was 12.43% in the dialysis population, which statistically was significantly less than in a control group of 8,051 nondialysis patients (21.77%; P = 0.0023). Moreover, pulmonary thromboembolism was less frequently fatal or contributing to death in the dialysis group than in the control group (P = 0.039). The prevalence of pulmonary thromboembolism in the dialysis group remained statistically unchanged over the 10-year period and was independent of a steady increase in the percentage of patients receiving recombinant erythropoietin therapy and the average hematocrit values. The occurrence of preterminal pulmonary thromboembolism was associated with a shorter period since onset of hemodialysis treatment and with infection as cause of death (P = 0. 031; P = 0.029, respectively). No statistically significant influence of the type of basic renal disease, type of dialysis anticoagulation, or dialysis access could be found. Our data suggest that, at least in the preterminal stage, the introduction of recombinant erythropoietin within the last decade had no substantial influence on the prevalence of pulmonary thromboembolism.

Inappropriately high plasma leptin levels in obese haemodialysis patients can be reduced by high flux haemodialysis and haemodiafiltration.

1. Blood leptin levels are increased in obese subjects and seem to play a major role in the hypothalamic regulation of appetite and energy expenditure. 2. We measured plasma leptin levels in a cohort of 46 patients on maintenance haemodialysis treatment and 26 control subjects. 3. Higher body mass indices were associated with higher plasma leptin levels in both groups. 4. The increase was more pronounced in the dialysis group than in the control group (P = 0.001), leading to inappropriately high plasma levels. 5. Haemodialysis with low flux cellulosic dialysers did not result in a decrease in plasma levels, while dialysis with high flux dialysers and haemodiafiltration led to a substantial reduction of the initial value to 76.95 +/- 14.89% (P = 0.013) and 62.90 +/- 24.94% (P = 0.001) respectively. 6. Our data suggest that high flux dialysis membranes can decrease plasma leptin levels and that inappropriately high plasma leptin levels may play a role in the nutrition of haemodialysis patients.