- Alpha-galactosidase A deficiency
- Anderson-Fabry disease
- Angiokeratoma corporis diffusum
- Angiokeratoma, diffuse
- Ceramide trihexosidase deficiency
Your QuestionWill Fabry disease affect a transplanted kidney? Previous to the transplant the disease was being managed with an enzyme supplement. Will the enzyme supplement need to be continued? What are, if any, cautions or additional treatments required to manage the disease with a transplanted kidney?
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Questions on this page
- Enzyme replacement therapy (ERT) - ERT has been associated with benefit in clinical trials, including improvement of cardiac structure and function, reduction in severity of neuropathic pain, and improvement in gastrointestinal involvement in addition to stabilization of kidney function
- Treatment for acroparesthesias
- Prevention of complications such as ischemic heart disease and cerebrovascular disease
- Surveillance including renal function studies, yearly cardiology evaluation, and yearly hearing evaluation
The recommended post-transplant care may affect an individual's treatment options for Fabry disease. Individuals interested in learning about the best treatment regime for themselves or family members should consult with health care providers who specialize in Fabry disease and kidney transplantation; a multi-disciplinary approach may be necessary.
- Atul Mehta, Derralynn A Hughes. Fabry Disease. GeneReviews. March 10, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1292/. Accessed 8/2/2011.
- Fabry Disease and the Kidneys. Emory University School of Medicine. http://www.fabry.org/fsig.nsf/PDFs/PDFs/$File/Fabry_Kidney_prot.pdf. Accessed 8/2/2011.
- Renzo Mignani et al. Dialysis and Transplantation in Fabry Disease: Indications for Enzyme Replacement Therapy. CJASN. February 2010; 5(2):379-385. http://cjasn.asnjournals.org/content/5/2/379.full. Accessed 8/2/2011.
- Mehta A. et al. Therapeutic goals in the treatment of Fabry disease. Genetics in medicine. November 2010; 12(11):713-720. http://www.ncbi.nlm.nih.gov/pubmed/20975569. Accessed 8/2/2011.