The role of genomic disorders in chronic kidney failure of undetermined aetiology ≤50 years.

Jeff GranhøjKatja Venborg PedersenMads Malik AagaardJesper Aagaard GraakjaerDorte Launholt LildballeHenrik BirnMaria Rasmussen

Published in: Clinical kidney journal (2024)

Genomic disorders were prevalent in this cohort with uKF, and causative CNVs were identified in 5 of 123 patients. Further studies combining the analysis of CNVs and sequence variants are needed to clarify the causal role of genomic disorders in kidney disease.

Keyphrases

copy number
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
peritoneal dialysis
dna methylation
patient reported outcomes
amino acid