PMID: 16240899Oct 26, 2005

Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients

Clinical Nephrology
M TanakaK Tomita

Abstract

Although previous studies reported that the prevalence of Fabry's disease was 0.16 - 1.2% in hemodialysis (HD) patients based on measurement of a-galactosidase A (alpha-Gal A) activity, few reports detected female patients by the screening for alpha-Gal A. Here we determined the prevalence of Fabry's disease not only in male but also in female HD patients by measuring alpha-Gal A. Plasma alpha-Gal A was measured in 696 consecutive males (n = 401) and females (n = 295) on HD. Patients with low plasma alpha-Gal A were examined for leukocyte alpha-Gal A, and patients with low leukocyte alpha-Gal A underwent alpha-Gal A gene sequence analysis for possible mutations, and family survey. Among 15 patients with low plasma alpha-Gal A activity, 4 male patients with low leukocyte alpha-Gal A and 1 female patient revealing low plasma alpha-Gal A were detected in 696 HD patients (0.7% of total patients). 3 of these 5 patients were already diagnosed to have the classical type of Fabry's disease. The other 2 patients were newly diagnosed as Fabry's disease, and did not have typical manifestations of Fabry's disease other than renal failure and left ventricular hypertrophy. DNA analysis of these 2 newly diagnosed patients revealed that each h...Continue Reading

Citations

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Dec 17, 2009·Stroke; a Journal of Cerebral Circulation·Marcella A WozniakR J Desnick
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Jul 23, 2015·Clinical and Experimental Nephrology·Osamu SaitoYoshikatsu Eto
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Nov 27, 2007·Molecular Genetics and Metabolism·William R WilcoxFabry Registry
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Mar 19, 2009·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Björn OqvistDavid G Warnock
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Related Concepts

Beano
Fabry Disease
DNA, Double-Stranded
Mini-Exon
Hemodialysis
Genealogical Tree
Severity of Illness Index
Viral Markers
Missense Mutation

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