10.1186_1471-2369-13-73.pdf (888.42 kB)
Download file

Sometimes when you hear hoof beats, it could be a zebra : consider the diagnosis of Fabry disease

Download (888.42 kB)
journal contribution
posted on 24.10.2012, 08:56 by James O. Burton, John P. Dormer, Helen E. Binns, Warren P. Pickering
Background: Fabry disease is an X-linked lysosomal storage disorder that results from a deficiency of the enzyme α-galactosidase A. Fabry disease is present in 4–5% of men with unexplained left ventricular hypertrophy or cryptogenic stroke. As enzyme replacement therapy is now more widely available, it is important to recognise the signs and symptoms of the disease and establish the diagnosis so that early treatment can be started before irreversible organ damage occurs. Case Presentation: A previously fit and well 32-year-old Caucasian male presented with multisystem dysfunction including renal impairment. Although he had no suggestive symptoms, a diagnosis of Fabry disease was first established on a native renal biopsy. This was confirmed by enzymatic testing and subsequent genetic analysis that revealed a potentially new pathogenic variant. Conclusions: This case highlights the importance both of Fabry disease as a differential diagnosis in patients with renal impairment in the context of multi-system disease and also of adequate tissue sampling for electron microscopy when performing native renal biopsies.

History

Citation

BMC Nephrology, 2012, 13:73

Version

VoR (Version of Record)

Published in

BMC Nephrology

Publisher

BioMed Central Ltd

eissn

1471-2369

Copyright date

2012

Available date

24/10/2012

Publisher version

http://www.biomedcentral.com/1471-2369/13/73

Language

eng

Usage metrics

Categories

Keywords

Exports