Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2023 Dec 13;9(3):549-568.
doi: 10.1016/j.ekir.2023.12.003. eCollection 2024 Mar.

Monogenic Kidney Diseases in Kidney Transplantation

Valentine Gillion  1   2 , Arnaud Devresse  1   2   3 , Eric Olinger  4 , Géraldine Dahlqvist  2   5 , Nathalie Demoulin  1   2 , Nathalie Godefroid  2   6 , Kathleen Claes  7 , Olivier Devuyst  1   2   8 , Nada Kanaan  1   2
Affiliations
Review

Monogenic Kidney Diseases in Kidney Transplantation

Valentine Gillion et al. Kidney Int Rep. .

Abstract

Monogenic kidney diseases are involved in up to 15% of end-stage kidney diseases (ESKDs) in adults, and in 70 % of pediatric patients. When these disorders lead to kidney failure (KF), kidney transplantation (KT) is the preferred mode of replacement therapy. KT requires specific considerations depending on the nature of the genetic disorder, the potential oncological risk, the risk of recurrence in the graft, the possibility of specific complications of immunosuppression, and the issue of living donation. The availability of genetic testing should play an increasing role in the evaluation of patients or related living donor candidates before transplantation, relevant for the pretransplantation and posttransplantation management.

Keywords: Mendelian diseases; genetic testing; immunosuppression; living donation; oncological transformation; recurrence risk.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Genetic testing in kidney transplantation: predictive factors, modalities, actionable genes, and impact. aHUS, atypical hemolytic and uremic syndrome; CGH, comparative genomic hybridization; CKD, chronic kidney disease; CNV, copy number variation; GNC3, C3 glomerulopathy; MLPA, multiplex ligation-dependent probe amplification; MPS, massive parallel sequencing; PH1, primary hyperoxaluria; SNP, small nucleotide polymorphism; WES, whole exome sequencing; WGS, whole genome sequencing.
Figure 2
Figure 2
Genetic kidney diseases: Types of inheritance and related living donation. Representative pedigrees and typical diseases are provided for each modality of inheritance. Depending on the mode of transmission, the related living donation may be allowed (V), contraindicated (X) or discouraged (±).
See this image and copyright information in PMC

References

    1. KDIGO Conference Participants Genetics in chronic kidney disease: conclusions from a Kidney Disease: improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int. 2022;101:1126–1141. doi: 10.1016/j.kint.2022.03.019. - DOI - PMC - PubMed
    1. Devuyst O., Knoers N.V., Remuzzi G., Schaefer F. Board of the Working Group for Inherited Kidney Diseases of the European Renal Association and European Dialysis and Transplant Association. Rare inherited kidney diseases: challenges, opportunities, and perspectives. Lancet. 2014;383:1844–1859. doi: 10.1016/S0140-6736(14)60659-0. - DOI - PMC - PubMed
    1. Knoers N., Antignac C., Bergmann C., et al. Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice. Nephrol Dial Transplant. 2022;37:239–254. doi: 10.1093/ndt/gfab218. - DOI - PMC - PubMed
    1. Soraru J., Chakera A., Isbel N., et al. The evolving role of diagnostic genomics in kidney transplantation. Kidney Int Rep. 2022;7:1758–1771. doi: 10.1016/j.ekir.2022.05.019. - DOI - PMC - PubMed
    1. Groopman E., Goldstein D., Gharavi A. Diagnostic utility of exome sequencing for kidney disease. N Engl J Med. 2019;380:2080–2081. - PubMed

LinkOut - more resources