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NDT Advance Access originally published online on October 13, 2006
Nephrology Dialysis Transplantation 2007 22(1):179-186; doi:10.1093/ndt/gfl528
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© The Author [2006]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population

Miroslav Merta1, Jana Reiterova1, Jana Ledvinova2, Helena Poupetová2, Robert Dobrovolny2, Romana Rysavá1, Dita Maixnerová1, Jan Bultas3, Jirí Motán4, Jitka Slivkova5, Doris Sobotova6, Jana Smrzova6 and Vladimir Tesar1

1Department of Nephrology, 1st Medical Faculty of Charles University and General Faculty Hospital, 2Institute of Inherited Metabolic Disorders, 1st Medical Faculty of Charles University and General Faculty Hospital, 3Department of Cardiology, 1st Medical Faculty of Charles University and General Faculty Hospital, Prague, 4Institute of Clinical Biochemistry and Laboratory Diagnostics, Charles University School of Medicine and University Hospital, Plzen, 5Nemocnice Hospital Dialysis Centre, Hodonín and 6Medical Faculty Hospital, Masaryk University, Brno, Czech Republic

Correspondence and offprint requests to: Miroslav Merta, MD Department of Nephrology, 1st Medical Faculty of Charles University and General Faculty Hospital, Prague, Czech Republic. Email: merta{at}cesnet.cz



  Abstract

Background. Fabry disease (FD) is a genetic disorder characterized by accumulation of trihexosylceramide in lysosomes of various tissues leading to multiorgan manifestations, including progressive renal disease. Previous screening studies have shown that a non-neglectable proportion of haemodialysis(HD) patients have unsuspected FD. An extensive FD screening study, the largest to date, has been conducted in HD patients in Czech Republic. We aimed to uncover previously undiagnosed FD patients, to enable them to benefit from cause-specific therapeutic intervention with enzyme replacement therapy (ERT).

Methods. Large-scale screening was executed using a convenient automated enzymatic ({alpha}-galactosidose A, {alpha}-Gal A) dried blood spot on filter paper fluorescence method.

Results. In total, 3370 (45.1% males, 54.9% females) out of 4058 HD patients (83%) in Czech Republic participated in this blood spot screening (BSS) study. Abnormal low fluorescence readings were obtained in 117 patients (3.5%). Subsequent determination of plasma {alpha}-Gal A activity identified four males and three females with deficient plasma enzyme activity. Determination of {alpha}-Gal A activity in peripheral blood leucocytes and confirmatory molecular analysis resulted in four newly diagnosed Fabry males and one female. Subsequent family screening identified 10 family members with genotypically proven FD. Based on these screening results, ERT could be offered to five male FD patients.

Conclusions. BSS represents a promising screening tool that has proven to be convenient and effective in uncovering unrecognized FD patients among the chronic HD population in Czech Republic.

Keywords: blood spot screening; end-stage renal disease; enzyme replacement therapy; Fabry disease; {alpha}-galactosidase A; haemodialysis


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