Female with Fabry Disease Unknowingly Donates Affected Kidney to Sister: A Call for Pre-transplant Genetic Testing

Area of Science:

• Genetics and rare diseases
• Nephrology
• Transplant medicine

Background:

• Fabry disease is an X-linked lysosomal storage disorder due to alpha-galactosidase A deficiency.
• Accumulation of globotriaosylceramide causes multi-systemic complications, including renal disease and end-stage renal disease.
• Female heterozygotes can develop symptomatic Fabry disease and renal complications.

Purpose of the Study:

• To report a case of kidney transplantation involving a donor with a de novo GLA mutation.
• To highlight the importance of screening for Fabry disease in kidney transplant candidates.
• To emphasize the potential for disease transmission and graft failure.

Main Methods:

• Case report detailing a kidney donation from a sister with a de novo GLA mutation.
• Description of the transplant recipient's progression to graft failure.
• Discussion of the implications for donor and recipient screening protocols.

Main Results:

• The kidney transplant recipient experienced graft failure and requires re-transplantation.
• The case illustrates that a de novo GLA mutation can lead to symptomatic Fabry disease in a donor.
• Undiagnosed Fabry disease in a donor can result in poor transplant outcomes.

Conclusions:

• Pre-transplant screening for Fabry disease in both donors and recipients is essential.
• Early diagnosis and appropriate management can prevent complications like graft failure.
• This case underscores the necessity of genetic screening in living organ donation.