Wilson, Gregory J., Wood, Simon, Patel, Chirag, Oliver, Kimberley, John, George, Ranganathan, Dwarakanathan, Mallett, Andrew, and Isbel, Nicole (2020) DNAJB11-Related Atypical ADPKD in a Kidney Transplant Donor. Kidney International Reports, 5 (8). pp. 1363-1366.

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Abstract

Genetic kidney disease is increasingly identified as a cause of chronic kidney disease (CKD) in patients who have previously had no known etiology. Following advances in genetic sequencing and understanding, more than 500 monogenic etiologies have been identified as causes of CKD, and there are likely many additional genes yet to be identified. Kidney transplantation is currently the most effective form of kidney replacement therapy, and living kidney transplants continue to have the greatest short- and long-term patient and allograft survival. However, living-related kidney transplantation in patients with an unknown cause of end-stage kidney disease (ESKD) is clinically and ethically complex, as a donating family member may also have undiagnosed genetic kidney disease in a presymptomatic state. By removing a kidney, the time to ESKD for the donor is potentially shortened.

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