Journal article
Targeted urine microscopy in Anderson-Fabry disease: a cheap, sensitive and specific diagnostic technique.
M Selvarajah, K Nicholls, TD Hewitson, GJ Becker
Nephrology Dialysis Transplantation Official Publication of the European Dialysis and Transplant Association European Renal Association | OXFORD UNIV PRESS | Published : 2011
DOI: 10.1093/ndt/gfr084
Abstract
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder resulting from the deficiency of trihexosylceramide α-galactosidase (α-Gal A). The diagnosis is often missed or delayed, and specific diagnostic tests (serum α-Gal A activity, genotyping or biopsy) are expensive and not widely available. We evaluated the diagnostic potential of urine microscopy in AFD. We studied 35 male and female AFD patients across a wide phenotypic spectrum and 21 controls with other renal diseases. Fresh urine sediment was examined under phase-contrast microscopy using polarized light for Maltese cross (MC) particles, anti-CD77 antibody to detect globotriaosylceramide (GL3, the substrate of α-Gal A),..
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Funding Acknowledgements
The authors gratefully acknowledge the cooperation of participating patients, the expert assistance of Dr Moira Finlay and Anne Beatty from the Department of Anatomical Pathology, Royal Melbourne Hospital, and the enabling support of both the International Society of Nephrology Fellowship programme and an Investigator-Initiated Research Grant from Genzyme.