Related Experiment Videos
Fabry disease in a renal allograft
Dechu P Puliyanda1, William R Wilcox, Suphamai Bunnapradist
1Center for Kidney Diseases, Department of Renal Pathology, Division of Medical Genetics, UCLA School of Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA. puliyanda@cshs.org
Summary
Kidney transplants from donors carrying Fabry disease can lead to recipient diagnosis. This case highlights the importance of screening for rare genetic disorders like Fabry disease in organ donors to ensure recipient safety.
Area of Science:
- Nephrology
- Genetics
- Transplantation
Background:
- Incidental rare disease findings in organ donors can impact transplant recipients.
- Fabry disease is an X-linked recessive disorder affecting multiple organs.
- Limited data exists on kidney transplant outcomes from Fabry disease carriers.
Observation:
- A kidney transplant recipient developed proteinuria post-transplant.
- Allograft biopsy revealed myelin figures indicative of Fabry disease.
- The donor, recipient, and donor's son were diagnosed with Fabry disease.
Findings:
- The recipient, with end-stage renal disease (ESRD), received a kidney from her sister.
- Pre-transplant donor screening was negative for Fabry disease.
- Post-transplant diagnosis confirmed Fabry disease in both donor and recipient.
Implications:
- This case underscores the need for comprehensive genetic screening in organ donors.
- Early detection of Fabry disease in donors can prevent recipient complications.
- Further research is needed on long-term outcomes of transplants from Fabry carriers.