Combined Heart and Kidney Transplantation in a Patient with Fabry Disease in the Enzyme Replacement Therapy Era
Article first published online: 30 MAY 2008
© 2008 The Authors Journal compilation © 2008 The American Society of Transplantation and the American Society of Transplant Surgeons
American Journal of Transplantation
Volume 8, Issue 6, pages 1345–1348, June 2008
How to Cite
Karras, A., De Lentdecker, P., Delahousse, M., Debauchez, M., Tricot, L., Pastural, M., Bruneval, P., Zemoura, L., Duong Van Huyen, J.-P. and Lidove, O. (2008), Combined Heart and Kidney Transplantation in a Patient with Fabry Disease in the Enzyme Replacement Therapy Era. American Journal of Transplantation, 8: 1345–1348. doi: 10.1111/j.1600-6143.2008.02245.x
- Issue published online: 30 MAY 2008
- Article first published online: 30 MAY 2008
- Received 16 January 2008, revised 20 February 2008 and accepted for publication 7 March 2008
- cardiac transplant;
- Fabry disease;
- kidney transplantation
Fabry disease (FD) is an X-linked genetic disease, resulting from the deficiency of alpha-galactosidase A, a lysosomal enzyme responsible for the cleavage of glycosphingolipids. In absence of enzyme replacement therapy (ERT), globotriaosylceramide (Gb3) accumulates in tissue, leading to progressive organ damage with severe renal, cardiac and central nervous system complications.
We herein describe the first case of successful combined and simultaneous heart and kidney transplantation in a young male patient with FD complicated by end-stage renal disease and severe heart failure not responding to late-onset ERT.
Combined heart and kidney transplantation can be recommended for Fabry patients with end-stage renal disease and overt hypertrophic cardiomyopathy, severe ischemic or valvular heart disease.