Abstract: SA-PO0142
Integrating Genetic Testing into Evaluation for Living Kidney Donor Candidates: A Single-Center Experience
Session Information
- ADPKD and Cystic Kidney Disease - 3
October 24, 2026 | Location: Exhibit Hall A, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1201 Genetic Diseases of the Kidneys: Cystic (Monogenic)
Authors
- Bregman, Adam Philip, University of Wisconsin-Madison, Madison, Wisconsin, United States
- Benoy, Megan E., University of Wisconsin-Madison, Madison, Wisconsin, United States
- Mandelbrot, Didier A., University of Wisconsin-Madison, Madison, Wisconsin, United States
- Garg, Neetika, University of Wisconsin-Madison, Madison, Wisconsin, United States
Background
Living kidney donor candidates (LKDCs) have a small but measurable increased risk of kidney failure following donation, particularly in the setting of a family history of kidney disease. Data regarding the use of genetic testing (GT) in LKDC evaluation remain limited, and additional experience is needed to inform best practices.
Methods
We evaluated the indications for GT, GT results, and their impact on donor candidacy among all LKDCs who underwent GT at our center between June 1, 2020 and May 1, 2026.
Results
A total of 38 LKDCs underwent GT.
Twenty candidates from 14 families underwent GT due to known monogenic kidney disease, including polycystic kidney disease (PKD, n=8 LKDCs from 7 families), autosomal dominant tubulointerstitial kidney disease (ADTKD, n=1), atypical hemolytic uremic syndrome (aHUS, n=1), C3 glomerulonephritis (C3GN, n=1), Dent disease (n=1), genetic focal segmental glomerulosclerosis (FSGS, n=1), and autosomal dominant Alport syndrome (n=1) (Figure 1). 8 LKDCs were excluded from donation and 12 were cleared based on genetic findings.
Five LKDCs underwent GT due to kidney cysts, including 1 candidate excluded after identification of a TSC1 VUS. Four had negative GT, of which 3 proceeded with donation.
Our center performs APOL1 testing on a selective basis where results are expected to affect decision-making. Nine Black donor candidates underwent APOL1 testing, with 2 excluded due to high-risk genotypes.
Four candidates with hematuria were found on biopsy to have thin basement membrane disease (TBMD) and underwent GT; all had negative GT and were cleared to donate based on lack of COL4 abnormality.
Conclusion
GT of LKDCs can help inform risk for subsequent development of a monogenic disease present in their intended related recipient. GT offers further risk stratification in LKDCs with TBMD. Questions remain regarding exclusion of high risk APOL1 mutation LKDCs if donor and recipient are informed of risk.