Molecular diagnosis of kidney transplant failure based on urine. Issue 5 (20th January 2020)

• Record Type: Journal Article
• Authors: Wiesener, Antje; Knaup, Karl X.; Büttner‐Herold, Maike; Dieterle, Anne; Stoeckert, Johanna; Riedl, Bernhard; Morath, Christian; Wald, Alexandra; Vondran, Florian; Braun, Felix; Schödel, Johannes; Schueler, Markus; Schiffer, Mario; Amann, Kerstin; Reis, André; Kraus, Cornelia; Wiesener, Michael S.
• Is Part Of: American journal of transplantation. Volume 20:Issue 5(2020)
• Page Start: 1410
• Page End: 1416
• Publication Date: 2020-01-20
• Subjects: clinical research/practice -- translational research/science -- kidney transplantation/nephrology -- genetics -- donors and donation: donor follow‐up -- genetics -- kidney disease -- molecular biology: DNA; Transplantation of organs, tissues, etc -- Periodicals; 617.95
• DOI: 10.1111/ajt.15738
• Languages: English
• ISSNs: 1600-6135

Abstract

Abstract : In light of the organ shortage, there is a great responsibility to assess postmortal organs for which procurement has been consented and to increase the life span of transplanted organs. The former responsibility has moved many centers to accept extended criteria organs. The latter responsibility requires an exact diagnosis and, if possible, omission of the harmful influence on the transplant. We report the course of a kidney transplant that showed a steady decline of function over a decade, displaying numerous cysts of different sizes. Clinical workup excluded the most frequent causes of chronic transplant failure. The filed allocation documents mentioned the donor's disease of oral‐facial‐digital syndrome, a rare ciliopathy, which can also affect the kidney. Molecular diagnosis was performed by culturing donor tubular cells from the recipient´s urine more than 10 years after transplantation. Next‐generation panel sequencing with DNA from tubular urinary cells revealed a novel truncating mutation in OFD1, which sufficiently explains the features of the kidney transplants, also found in the second kidney allograft. Despite this severe donor disease, lifesaving transplantation with good long‐term outcome was enabled for 5 recipients. Abstract : More than a decade after deceased kidney transplantation, the donor disease and reason for progressive graft failure is clarified by molecular genetics of DNA from cultured tubular cells from the recipient´s urine.