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Nephron. 2021 Dec 09;1-7. doi: 10.1159/000520150. Epub 2021 Dec 09.

Is It Time to Utilize Genetic Testing for Living Kidney Donor Evaluation?.

Nephron

Ekamol Tantisattamo, Uttam G Reddy, Hirohito Ichii, Antoney J Ferrey, Donald C Dafoe, Nick Ioannou, Jing Xie, Tessa R Pitman, Emily Hendricks, Natsuki Eguchi, Kamyar Kalantar-Zadeh

Affiliations

  1. Harold Simmons Center for Kidney Disease Research and Epidemiology, Division of Nephrology, Hypertension and Kidney Transplantation, Department of Medicine, University of California Irvine School of Medicine, Orange, California, USA.
  2. Nephrology Section, Department of Medicine, Tibor Rubin Veterans Affairs Medical Center, Veterans Affairs Long Beach Healthcare System, Long Beach, California, USA.
  3. Multi-Organ Transplant Center, Section of Nephrology, Department of Internal Medicine, William Beaumont Hospital, Oakland University William Beaumont School of Medicine, Royal Oak, Michigan, USA.
  4. Division of Kidney and Pancreas Transplantation, Department of Surgery, University of California Irvine School of Medicine, Orange, California, USA.
  5. Transplant and Renal Genetics, Natera Inc, San Carlos, California, USA.
  6. Lundquist Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, California, USA.

PMID: 34883493 DOI: 10.1159/000520150

Abstract

Living donor kidney transplantation is an effective strategy to mitigate the challenges of solid organ shortage. However, being a living kidney donor is not without risk, as donors may encounter short- and long-term complications including the risk of developing chronic kidney disease, end-stage kidney disease, hypertension, and possible pregnancy-related complications. Although the evaluation of potential living donors is a thorough and meticulous process with the intention of decreasing the chance of complications, particularly in donors who have lifetime risk projection, risk factors for kidney disease including genetic predispositions may be missed because they are not routinely investigated. This type of testing may not be offered to patients due to variability and decreased penetrance of symptoms and lack of availability of appropriate genetic testing and genetic specialists. We report a case of a middle-aged woman with a history of gestational diabetes and preeclampsia who underwent an uneventful living kidney donation. She developed postdonation nonnephrotic range proteinuria and microscopic hematuria. Given the risk of biopsy with a solitary kidney, genetic testing was performed and revealed autosomal dominant Alport syndrome. Our case underscores the utility of genetic testing. Hopefully, future research will examine the incorporation of predonation genetic testing into living kidney donor evaluation.

© 2021 The Author(s) Published by S. Karger AG, Basel.

Keywords: Alport syndrome; Genetic testing; Hematuria; Kidney transplantation; Living donor; Preeclampsia; Pregnancy; Proteinuria

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