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Beyond the kidney biopsy: genomic approach to undetermined kidney diseases.

Thomas RobertLaure RaymondMarine DancerJulia TorrentsNoémie Jourde-ChicheStéphane BurteyChristophe BéroudLaurent Mesnard
Published 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.
Keyphrases
  • healthcare
  • ultrasound guided
  • fine needle aspiration
  • copy number
  • end stage renal disease
  • newly diagnosed
  • ejection fraction
  • genome wide
  • clinical practice