Abstract: FR-PO748
The Importance of Enzyme Replacement Therapy After Kidney Transplantation in Fabry Disease
Session Information
- Post-Transplantation and Case Reports
November 03, 2023 | Location: Exhibit Hall, Pennsylvania Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Transplantation
- 2102 Transplantation: Clinical
Authors
- Alotaibi, Manal, Johns Hopkins University, Baltimore, Maryland, United States
- Atta, Mohamed G., Johns Hopkins University, Baltimore, Maryland, United States
- Brennan, Daniel C., Johns Hopkins University, Baltimore, Maryland, United States
- Kant, Sam, Johns Hopkins University, Baltimore, Maryland, United States
Introduction
Fabry disease(FD) is an X-linked disease caused by an enzyme alpha-galactosidase defect due to GLA gene mutations. It can lead to multi-organ involvement including kidneys, heart and nervous system. We present a case of Fabry disease in a patient who received a kidney transplant was initially unable to afford and continue enzyme replacement therapy(ERT) and developed extra-renal complications of FD
Case Description
A 51-year-old woman with a history of Fabry disease was referred to us with progressive kidney disease. The patient was diagnosed with Fabry disease at the age of 32 and subsequently received ERT. However, her therapy ceased due to medical insurance issues. She had progressive kidney disease and development of dilated cardiomyopathy. Genetic testing revealed a novel heterozygous mutation variant c.820G>C (p.Gly274Arg) in the GLA gene that was deemed of unknown significance. A native kidney biopsy revealed glomerular inclusions with diffuse renal parenchymal scarring, Figure 1. The patient was eventually prescribed agalsidase beta due to non-amenability to chaperone therapy with migalastat. However, she progressed to ESRD and subsequently received a kidney transplant with excellent function. She was prescribed agalisidase maintenance therapy. She was admitted 3 months posttransplant with chest pain and found to have increased septal hypertrophy and progression of aortic stenosis. The patient reported that she had been off agalsidase for over 9 months due to a recurrence of medical insurance issues.
Discussion
ERT and migalastat are currently the only approved specific therapies for Fabry disease. In patients with ESRD due to Fabry nephropathy, kidney transplantation is recommended. ERT is safe after kidney transplantation and recommended to be continued posttransplant for extrarenal manifestations, with observational studies demonstrating a slower increase in left ventricular mass index in transplanted patients who continued ERT.