Combined heart and kidney transplantation in a patient with Fabry disease in the enzyme replacement therapy era.

Abstract

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.

• Authors: A Karras, P De Lentdecker, M Delahousse, M Debauchez, L Tricot, M Pastural, P Bruneval, L Zemoura, J-P Duong Van Huyen, O Lidove
• Journal: American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons (Am J Transplant) Vol. 8 Issue 6 Pg. 1345-8 (Jun 2008) ISSN: 1600-6143 [Electronic] United States
• PMID: 18522550 (Publication Type: Case Reports, Journal Article)

Chemical References

• alpha-Galactosidase

Topics

• Adult
• Enzyme Therapy
• Fabry Disease (complications)
• Heart Failure (drug therapy, etiology, surgery)
• Heart Transplantation
• Humans
• Kidney Failure, Chronic (drug therapy, etiology, surgery)
• Kidney Transplantation
• Male
• alpha-Galactosidase (therapeutic use)