Abstract: SA-PO0986
Importance of Genetic Testing in Candidate Kidney Transplant Recipients and Donors
Session Information
- Transplantation: Clinical - Case Reports
November 08, 2025 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Transplantation
- 2102 Transplantation: Clinical
Authors
- Rodriguez, Eddie M., Bayamon Medical Center Corp, Bayamón, Bayamón, Puerto Rico
- Pitman, Tessa R., Natera, Inc., Austin, Texas, United States
- Deyo, Jennifer, Natera, Inc., Austin, Texas, United States
- Gauthier, Phil, Natera, Inc., Austin, Texas, United States
Introduction
Live kidney donation is the preferred treatment for patients with end stage kidney disease (ESKD). Donors must be healthy, with minimal risk of developing chronic kidney disease (CKD). Nephrology clearance is required to be declared a suitable kidney donor; nonetheless, some potential donors are at risk of future chronic kidney disease due to genetic predispositions which may be missed at the initial evaluation. Additionally, clinical practice guidelines (Thomas et al., Am. J. Transpl. 2023, 23(5):597-607) recommend genetic testing of recipient candidates when the kidney disease etiology is unknown and a first-degree relative wishes to be considered for donation.
Case Description
A 57 year-old previously healthy, previous living donor was evaluated by a nephrologist. He had donated a kidney to his mother who had ESKD due to presumptive hypertensive nephropathy. The patient developed moderate albuminuria with a UACR of 240mg/g which was treated initially with lisinopril and subsequently dapagliflozin. Testing including HIV, hepatitis panel, ANA, and complement levels; results were unrevealing. Kidney biopsy was contraindicated due to his status as a previous donor. He underwent broad-panel renal genetic testing (RenasightTM, Natera, Austin, TX) 3 years after initial presentation that revealed a heterozygous likely pathogenic missense variant in COL4A3 consistent with a molecular diagnosis of autosomal dominant Alport syndrome (ADAS). This is expected to be the primary etiology of both his post-donation CKD and his mother’s ESKD.
Discussion
Genetic testing plays a crucial role in accurately diagnosing kidney disease, especially in subclinical patients with a positive yet non-specific family history. When considering kidney donation, it is imperative to understand the genetics of both donor and recipient to optimally determine donor eligibility and estimate the risk of future development of CKD. A molecular diagnosis of Alport syndrome at the time of donation may have precluded this patient from donating. Guidelines recognize the variability in severity common in some monogenic forms of CKD, such as ADAS, allowing more effective risk stratification. Genetic testing in a related donor scenario provides great value and should be standardized for every patient considering kidney donation.