Abstract
Fabry disease, an X-linked lysosomal storage disorder, is caused by the deficiency of the alpha-galactosidase A enzyme and the progressive accumulation of globotriaosylceramide in vascular endothelial cells. The multi-systemic manifestations of Fabry disease include cardiac, gastrointestinal, renal, and neuropathic complications. Renal dysfunction and ultimately end-stage renal disease occurs in classically affected males and in about 10–15% of female heterozygotes from classically affected families as a result of progressive glycosphingolipid accumulation. We report a case in which a female with a de novo GLA mutation donated a kidney to her sister prior to the diagnosis of symptomatic Fabry disease. The transplant recipient has progressed to graft failure and has been relisted for transplant. This case report demonstrates the need to screen potential kidney transplant donors and recipients for Fabry disease.
Competing interests: None declared.
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Abbreviations
- ESRD:
-
End-stage renal disease
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Acknowledgments
The University of Virginia’s Division of Medical Genetics receives grants for educational funding from Genzyme Corporation. We wish to gratefully acknowledge Mount Sinai Genetic Testing Laboratory for conducting the molecular and enzymatic analysis on the three patients mentioned in the manuscript and for discussion of this case.
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Communicated by: Robert J Desnick.
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The University of Virginia’s Division of Medical Genetics receives grants for educational funding from Genzyme Corporation.
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© 2011 SSIEM and Springer-Verlag Berlin Heidelberg
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Paull, L.S., Lipinski, M.J., Wilson, W.G., Lipinski, S.E. (2011). Female with Fabry Disease Unknowingly Donates Affected Kidney to Sister: A Call for Pre-transplant Genetic Testing. In: JIMD Reports - Case and Research Reports, 2012/1. JIMD Reports, vol 4. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2011_108
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DOI: https://doi.org/10.1007/8904_2011_108
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