Screening fabry disease in patients with chronic kidney disease without renal replacement therapy: preliminary results of a multicenter study

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Screening Fabry’s disease in chronic kidney disease patients not on dialysis: A multicenter study

Objectives: Fabry's disease is an X-linked inherited, rare, progressive, lysosomal storage disorder, affecting multiple organs due to the deficient activity of ?-galactosidase A (?-Gal A) enzyme. The prevalence has been reported to be 0.15-1% in hemodialysis patients; however, the information on the prevalence in chronic kidney disease not on dialysis is lacking. This study aimed to determine the prevalence of Fabry’s disease in chronic kidney disease. Methods: The patients older than 18 years, enclosing KDIGO 2012 chronic kidney disease definitions, not on dialysis, were enrolled. Dried blood spots on Guthrie papers were used to analyze ?-Gal A enzyme and genetic analysis was performed in individuals with enzyme activity ?1.2µmol/L/h. Results: A total of 1453 chronic kidney disease patients not on dialysis from seven clinics in Turkey were screened. The mean age of the study population was 59.3±15.9 years. 45.6% of patients were female. The creatinine clearance of 77.3% of patients was below 60mL/min/1.73 m2, 8.4% had proteinuria, and 2.5% had isolated microscopic hematuria. The mean value of patients’ ?-Gal A enzyme was detected as 2.93±1.92µmol/L/h. 152 patients had low levels of ?-Gal A enzyme activity (?1.2µmol/L/h). In mutation analysis, A143T and D313Y variants were disclosed in three male patients. The prevalence of Fabry’s disease in chronic kidney disease not on dialysis was found to be 0.2% (0.4% in male, 0.0% in female). Conclusion: Fabry’s disease should be considered in the differential diagnosis of chronic kidney disease with unknown etiology even in the absence of symptoms and signs suggestive of Fabry’s disease. © 2016 The Author(s)

Effect of thrombocytapheresis on blood rheology in healthy donors: Role of nitric oxide

Platelet transfusions are increasingly being used to treat thrombocytopenic conditions. Because of anticoagulation, changes in blood composition and extracorporeal circulation, donor apheresis may cause alterations in hemorheology. This study aimed at investigating the effects of thrombocytapheresis on donor blood rheology. The effect of nitric oxide (NO) on donor red blood cell (RBC) deformability after thrombocytapheresis was also studied. Platelets were collected by a Haemonetics MCS 3p cell seperator. Blood samples were obtained before and 15 min after thrombocytapheresis. RBC deformability and aggregation were measured using an ektacytometer, whole blood viscosity (WBV) was determined with a cone-plate rotational viscometer. Donor RBCs were shown to be less deformable at all stress levels except 0.30 Pa after thrombocytapheresis and NO donor sodium nitroprusside (SNP, 10-6 M) reversed the reduced deformability caused by thrombocytapheresis. It was observed that donor apheresis induces a decrement in RBC aggregation and WBV measured at standard hematocrit (Hct). No significant alterations were observed in WBV values determined at native Hct values. Thrombocytapheresis also resulted in a decrement in fibrinogen, total protein, cholesterol and albumin levels whereas Hct was found to be increased and serum glucose, triglyceride, hemoglobin levels unaltered after apheresis. These results suggest that, thrombocytapheresis causes alterations in hemorheological parameters and hence in the perfusion of the microvasculature of the donors and NO appears to have a protective effect on the impairment observed in RBC deformability. Crown Copyright © 2008