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Successful Combined Heart and Kidney Transplantation in Patient With Fabry's Disease: A Case Report

Navin Rajagopalan1, Donna R Dennis1, William O'Connor1

  • 1University of Kentucky, Lexington, Kentucky.

Transplantation Proceedings
|August 3, 2019
PubMed

Insights

Fabry disease, a genetic disorder causing organ damage, can be treated with combined heart and kidney transplants. This case shows successful long-term outcomes with enzyme replacement therapy post-transplant.

Area of Science:

  • Genetics and Medicine
  • Transplantation Surgery
  • Metabolic Disorders

Background:

  • Fabry disease is an X-linked genetic disorder.
  • Glycosphingolipid accumulation leads to kidney and heart damage.
  • Chronic renal failure and heart failure are severe complications.

Observation:

  • A 62-year-old male with Fabry disease presented with advanced kidney and heart failure.
  • The patient underwent a combined heart and kidney transplant.
  • He received enzyme replacement therapy with recombinant human alpha-galactosidase A.

Findings:

  • The patient achieved normal cardiac and renal function 7 years post-transplantation.
  • Successful organ function was maintained with ongoing enzyme replacement therapy.
  • Fabry disease did not preclude successful transplantation.

Implications:

  • Combined heart and kidney transplantation is a viable option for advanced Fabry disease.
  • Enzyme replacement therapy is crucial for long-term graft and patient survival.
  • This case highlights the potential for successful organ transplantation in Fabry disease patients.

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