ATC Abstracts

American Transplant Congress abstracts

  • Home
  • Meetings Archive
    • 2022 American Transplant Congress
    • 2021 American Transplant Congress
    • 2020 American Transplant Congress
    • 2019 American Transplant Congress
    • 2018 American Transplant Congress
    • 2017 American Transplant Congress
    • 2016 American Transplant Congress
    • 2015 American Transplant Congress
    • 2013 American Transplant Congress
  • Keyword Index
  • Resources
    • 2021 Resources
    • 2016 Resources
      • 2016 Welcome Letter
      • ATC 2016 Program Planning Committees
      • ASTS Council 2015-2016
      • AST Board of Directors 2015-2016
    • 2015 Resources
      • 2015 Welcome Letter
      • ATC 2015 Program Planning Committees
      • ASTS Council 2014-2015
      • AST Board of Directors 2014-2015
      • 2015 Conference Schedule
  • Search

Genetic Testing of Living Related Donors for Inherited Renal Disease Improves Evaluation and Promotes Informed Choice of At-Risk Living Donors

C. P. Thomas1, M. E. Freese1, D. A. Katz2

1Internal Medicine, University of Iowa, Iowa City, IA, 2Surgery, University of Iowa, Iowa City, IA

Meeting: 2020 American Transplant Congress

Abstract number: 238

Keywords: Genomics, Kidney, Living donor, Non-invasive diagnosis

Session Information

Session Name: Kidney Living Donor: Selection

Session Type: Oral Abstract Session

Date: Saturday, May 30, 2020

Session Time: 3:15pm-4:45pm

 Presentation Time: 3:27pm-3:39pm

Location: Virtual

*Purpose: Living kidney donors (LKDs) with a family history of kidney disease are at higher risk of end-stage renal disease (ESRD) compared to LKDs without a positive family history, likely reflecting the inheritance of shared disease alleles. The objective of this study was to determine if screening LKDs for genetic disease would improve donor evaluation and promote informed choice and donor safety.

*Methods: Living donors with related recipient candidates whose cause of ESRD was probably or likely genetic in origin were selected for genetic counseling and screening as part of their donor evaluation. In each case the recipient candidate was first tested with a targeted or a comprehensive screening strategy to verify the genetic diagnosis. If a genetic diagnosis was confirmed, then focused or cascade screening was done for the related LKD.

*Results: A total of 16 recipient candidates with 20 related living donors were selected for screening. A genetic diagnosis was confirmed in 8 patients (ADPKD-PKD1: 4, ALPORT-COL4A3: 2, ALPORT-COL4A5: 1 and ADTKD-MUC1: 1) and 2 candidates had variants of unknown significance (VUS) in phenotype relevant genes. Of 20 related living donor candidates, cascade screening was done for 16 whose related recipient had a confirmed genetic diagnosis. Of these, 10 LKDs screened negative for the familial variant and were permitted to donate, 6 screened positive and were counseled against donation. All 6 LKDs with a family history of ADPKD were asymptomatic and between 20 and 30 yr. old. In 5 of them, ADPKD was excluded by negative genetic screening, a situation where a normal renal ultrasound has a negative predictive value of only ~ 90%. 3 of 3 recipients with confirmed COL4 nephropathy had no syndromic features to suggest Alport syndrome and all 3 of their LKDs with microscopic hematuria and a normal eGFR tested positive by genetic screening. In 4 other LKDs, genetic screening could not be done as a diagnosis was not established in their related recipients and these LKDs were permitted to donate after counseling.

*Conclusions: The inclusion of genetic testing in recipient candidates clarified their diagnosis, permitted screening and exclusion of disease in LKDs, facilitated genetic counseling and helped LKDs make informed decisions.

  • Tweet
  • Email
  • Print

To cite this abstract in AMA style:

Thomas CP, Freese ME, Katz DA. Genetic Testing of Living Related Donors for Inherited Renal Disease Improves Evaluation and Promotes Informed Choice of At-Risk Living Donors [abstract]. Am J Transplant. 2020; 20 (suppl 3). https://atcmeetingabstracts.com/abstract/genetic-testing-of-living-related-donors-for-inherited-renal-disease-improves-evaluation-and-promotes-informed-choice-of-at-risk-living-donors/. Accessed May 11, 2025.

« Back to 2020 American Transplant Congress

Visit Our Partner Sites

American Transplant Congress (ATC)

Visit the official site for the American Transplant Congress »

American Journal of Transplantation

The official publication for the American Society of Transplantation (AST) and the American Society of Transplant Surgeons (ASTS) »

American Society of Transplantation (AST)

An organization of more than 3000 professionals dedicated to advancing the field of transplantation. »

American Society of Transplant Surgeons (ASTS)

The society represents approximately 1,800 professionals dedicated to excellence in transplantation surgery. »

Copyright © 2013-2025 by American Society of Transplantation and the American Society of Transplant Surgeons. All rights reserved.

Privacy Policy | Terms of Use | Cookie Preferences