Session Time: 6:00pm-7:00pm
Presentation Time: 6:00pm-7:00pm
Location: Hall C & D
*Purpose: About 10% of end stage renal disease (ESRD) patients have no diagnosis of the primary kidney disease. Patients with unknown renal pathology can access to kidney transplantation with possible development of complications related to the native kidney disease, especially in the case of genetic origin.In the present project we enrolled 300 patients including transplanted patients and those waiting for kidney transplantation with un-diagnosed primary renal disease, in order to explore if genetic screening could help to identify the primary kidney defect.
*Methods: We used a specific custom-made panel for next generation sequencing (NGS) using the Agilent technology. The panel included several genes associated to Fabry disease, podocytopaties, complement-mediated nephropathies and Alport syndrome related diseases, all potentially able to influence the transplantation outcome.
*Results: The first 60 patients were analyzed. So far, we identified 21 interesting variants. These variants involve genes known to be linked with nephrotic syndrome, structural kidney diseases, complement system defects. In particular we found variants in COL4A4 (5), COL4A3 (2), CFB (1), C3 (2), LMX1B (1), PAX2 (2), TRPC6 (1), WT1 (1), INF2 (1), MYO1E (1), EMP2 (1), COQ2 (1), ADCK4 (2).
*Conclusions: In conclusion, we set up a genetic panel based on NGS able to identify DNA mutations in patients with ESRD of unknown origin, with un-conclusive kidney biopsy . The identification of the specific genetic background may give the opportunity to evaluate the risk of recurrence of the primary disease especially for patients candidate to living donor kidney transplant.
To cite this abstract in AMA style:Castellano G, Giliberti M, Pontrelli P, Gigante M, Diella S, Accetturo M, Stea E, Mitrotti A, Gesualdo L. Identification of Rare Genetic Disorders in Kidney Transplantation Recipients with Un-Diagnosed Nephropathy through NGS Approach [abstract]. Am J Transplant. 2019; 19 (suppl 3). https://atcmeetingabstracts.com/abstract/identification-of-rare-genetic-disorders-in-kidney-transplantation-recipients-with-un-diagnosed-nephropathy-through-ngs-approach/. Accessed June 26, 2019.
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