Session Name: Biomarkers, Immune Assessment and Clinical Outcomes VI
Date: Saturday, May 30, 2020
Session Time: 3:15pm-4:45pm
Presentation Time: 4:15pm-4:27pm
*Purpose: Recent studies evaluating genetic causes of kidney disease have reclassified a subgroup of focal segmental glomerulosclerosis (FSGS) into collagenopathies. This knowledge has implication in counseling prospective kidney transplant recipients about disease recurrence risk as well as screening and counselling of living related donors. Here we present a review of the use of a custom panel of genes in the kidney transplant practice.
*Methods: Subjects’ genomic DNA was analyzed using whole exome sequencing for a comprehensive renal genetic panel created in collaboration with the Mayo Clinic Center for Individualized Medicine. The panel encompasses 340 genes encoding glomerular, basement membrane, tubulo-interstitial, cystic and complement mediated renal diseases. Informed consent for genetic testing was obtained by the evaluating nephrologist. Results were reviewed and correlated with recipient phenotype by a multidisciplinary committee of nephrologists, renal pathologists, medical geneticists and genetic counselor who relayed the result and recommendation of committee to patients. Pathogenic or likely pathogenic variants are defined according to the American College of Medical Genetics and Genomics (ACMG) guidelines for clinical sequence interpretation.
*Results: A total of 12 patients with biopsy finding of FSGS lesion who presented for kidney transplant evaluation between 12/2018 and 10/2019 underwent genetic screening. Most were male (8/12) and Caucasian (9/12). Only two patients reported family history of kidney disease. Five cases were positive for a likely pathogenic variant of which 4 led to reclassification of etiology from FSGS to Alport Syndrome with one positive for FSGS associated gene (WT1) (Table 1). One case was negative and the remaining 6 cases revealed variants of uncertain significance.
*Conclusions: Genetic testing has helped reclassify 33% of cases from FSGS to Alport syndrome. These results have provided valuable information that allowed more accurate estimation of risk of recurrence post-transplant as well as helped in counseling and screening of potential blood related donors.
To cite this abstract in AMA style:Ters MEl, Vairo FPintoe, Fervenza FC, Alexander M, Cosio FG, Amer H, Hogan M. Role of Genetic Studies in Reclassifying Cause of End Stage Kidney Disease among Kidney Transplant Candidates [abstract]. Am J Transplant. 2020; 20 (suppl 3). https://atcmeetingabstracts.com/abstract/role-of-genetic-studies-in-reclassifying-cause-of-end-stage-kidney-disease-among-kidney-transplant-candidates/. Accessed August 5, 2021.
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