Beyond the kidney biopsy: genomic approach to undetermined kidney diseases.
Thomas RobertLaure RaymondMarine DancerJulia TorrentsNoémie Jourde-ChicheStéphane BurteyChristophe BéroudLaurent MesnardPublished in: Clinical kidney journal (2023)
Genetic diagnosis has provided new clinical insights by clarifying or reclassifying kidney disease etiology in over a third of UKD patients. Exome "first" may have a significant positive diagnostic yield, thus avoiding invasive kidney biopsy; moreover, the diagnostic yield remains elevated even when biopsy is impossible or inconclusive. ES provides a clinical benefit for routine nephrological healthcare in patients with UKD.