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

Am J Transplant. 2008 Jun;8(6):1345-8. doi: 10.1111/j.1600-6143.2008.02245.x.

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.

Publication types

  • Case Reports

MeSH terms

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

Substances

  • alpha-Galactosidase