The relevance of genetic disease in kidney transplantation
Year: 2026
Type: review
Abstract: PURPOSE OF REVIEW: Genetic disease is an increasingly recognized, but undiagnosed, cause of kidney failure. This review examines how genetics informs the evaluation and management of kidney transplant candidates and recipients. RECENT FINDINGS: Monogenic disease accounts for 10-20% of adult chronic kidney disease. In kidney transplantation cohorts, diagnostic yield increases with clinical selection, from 11% among waitlisted patients tested after excluding those with a documented genetic cause of kidney disease, to 23% in unselected kidney transplant recipients including polycystic kidney disease, to 33-54% in highly selected cohorts. Genomic testing reclassifies the cause of kidney failure in about one-third of genetically diagnosed recipients, most often correcting focal segmental glomerulosclerosis, hypertensive nephrosclerosis, or chronic kidney disease of unknown cause. Because recurrence tracks disease mechanisms rather than histology, a molecular diagnosis distinguishes nonrecurrent intrinsic kidney disease from recurrent circulating-factor and complement-mediated disease. It also identifies conditions that recur but are preventable, such as primary hyperoxaluria and adenine phosphoribosyltransferase deficiency. SUMMARY: Genetic testing, by targeted phenotype panels, comprehensive kidney-disease panels, or exome and genome sequencing as appropriate, should be integrated to the assessment of selected kidney transplant candidates and recipients, interpreted within a multidisciplinary team, and supported by periodic reanalysis.
Authors: Monica Arnaldi, Dervla M. Connaughton
Institutions: Western University, London Health Sciences Centre
Language: English
Subfield: Nephrology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W7225342233