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Alpha‐Galactosidase A Activity Levels in Turkish Male Hemodialysis Patients
Author(s) -
Kalkan Uçar Sema,
Sozmen Eser,
Duman Soner,
Başçi Ali,
Çoker Mahmut
Publication year - 2012
Publication title -
therapeutic apheresis and dialysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.415
H-Index - 53
eISSN - 1744-9987
pISSN - 1744-9979
DOI - 10.1111/j.1744-9987.2012.01092.x
Subject(s) - medicine , hemodialysis , uric acid , creatinine , fabry disease , gastroenterology , population , turkish population , diabetes mellitus , endocrinology , disease , biochemistry , chemistry , environmental health , genotype , gene
Abstract Fabry disease is an X‐linked lysosomal storage disorder due to deficient activity of alpha‐galactosidase A (α‐Gal A) leading to renal insufficiency in males. The aim of present study was to investigate the level of α‐Gal A activity and to determine the prevalence of Fabry disease in a Turkish male hemodialysis population. The activity of plasma α‐Gal A was measured in a group of 808 male hemodialysis patients using fluorimetric methods. Patients with low α‐Gal A activity were evaluated clinically and genetic testing was carried out. A correlation with creatinine, uric acid, urea, white blood cell (WBC), and high sensitivity (hs)CRP and α‐Gal A activity was also investigated. Plasma α‐Gal A activity among this male population undergoing hemodialysis was 7.88 ± 5.18 µM/hour/L (0.40–55.72), significantly lower when compared to controls. No influence of creatinine, uric acid, WBC, or hsCRP on measured α‐Gal A activity was reported. Two new Fabry disease patients were identified. Both were previously diagnosed with diabetes mellitus type 2. These findings provide, for the first time, data regarding the prevalence of α‐Gal A deficiency (0.24%) in Turkish males receiving hemodialysis.