Is It Time to Utilize Genetic Testing for Living Kidney Donor Evaluation?

Area of Science:

• Nephrology
• Transplantation Immunology
• Medical Genetics

Background:

• Living donor kidney transplantation is crucial for addressing organ shortages but carries risks for donors.
• Donor evaluation aims to minimize complications, yet genetic predispositions to kidney disease may be overlooked.
• Current evaluations may not include genetic testing due to symptom variability and limited specialist access.

Observation:

• A middle-aged woman with a history of gestational diabetes and preeclampsia donated a kidney uneventfully.
• Post-donation, she developed non-nephrotic proteinuria and microscopic hematuria.
• Genetic testing, chosen over biopsy due to her solitary kidney, revealed autosomal dominant Alport syndrome.

Findings:

• Autosomal dominant Alport syndrome was diagnosed in a living kidney donor after donation.
• The case demonstrates that genetic factors can manifest or be detected after kidney donation.
• Genetic testing proved valuable in diagnosing a previously unrecognized hereditary kidney disease.

Implications:

• This case emphasizes the potential utility of incorporating genetic testing into living kidney donor evaluations.
• Further research is warranted to explore the routine use of predonation genetic screening.
• Proactive genetic screening could enhance long-term donor safety and prevent undiagnosed hereditary kidney diseases.