Session Name: Kidney Living Donor: Selection
Session Date & Time: None. Available on demand.
*Purpose: Genetic testing is an emerging tool in kidney transplantation (KT), particularly to assess risk of recurrent disease in patients with KT and for selection of a living-related kidney donor. Studies highlight the benefit of using a broad, unbiased panel over using a selected targeted panel based on the clinical presentation of the disease.
*Methods: A total of 19 patients, aged 23-69 years, who underwent genetic testing using a commercially available 382-gene renal panel in August and September, 2020 were included in this study. Of the 19 patients, 13 were awaiting transplant and 6 recently received transplants. Samples were analyzed using next-generation sequencing and variants were confirmed by orthogonal methods (eg, Sanger sequencing). Genetic testing results were interpreted by certified genetic counselors (cGCs) and was correlated with other clinical parameters.
*Results: Monogenic variants associated with kidney disease were identified in 16% (3/19) patients (Table 1). All conditions identified using the 382 gene renal panel test confer increased risk of extrarenal manifestations for which the patients were not being monitored previously. Additionally, 42% (8/19) of the patients were identified as heterozygous carriers of autosomal recessive conditions with potential reproductive risk implications.
*Conclusions: Genetic testing resulted in the diagnosis of conditions that had previously not been identified based on clinical presentation alone. These findings demonstrate the benefit of using the broad renal genetic test in the transplant setting. Furthermore, genetic testing results can support patient management and enable identification of at-risk family members, such as living-related kidney donor. Integrating renal genetic tests in KT and future studies will expand our understanding of monogenic contributors to end-stage renal disease (ESRD) and guide pre- and post-KT management.
|Age||Gender||Clinical History||Gene(s) identified||Inheritance||Condition|
|35||M||ESRD, liver ascites, hepatorenal insufficiency||AVPR2||X-linked||Nephrogenic diabetes insipidus|
|36||M||ESRD, seizures, renal angiomyolipoma||PKD1, TSC2||Autosomal dominant||Polycystic kidney disease with tuberous sclerosis complex|
|23||M||KTR returning dialysis after graft loss||INF2||Autosomal dominant||Focal segmental glomerulosclerosis (FSGS) type 5, intermediate Charcot-Marie-Tooth disease E with FSGS|
To cite this abstract in AMA style:Tantisattamo E, Brossart K, Ioannou N, McCormick S, Billings PR, Tabriziani H. Early Experience with Broad Renal Genetic Testing in an Academic Transplant Center [abstract]. Am J Transplant. 2021; 21 (suppl 3). https://atcmeetingabstracts.com/abstract/early-experience-with-broad-renal-genetic-testing-in-an-academic-transplant-center/. Accessed June 11, 2021.
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