Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome.

Teresa Bada-BoschAngel M SevillanoMaría Teresa Sánchez-CalvinCarmen Palma-MillaIgnacio Alba de CáceresFrancisco Díaz-CrespoHernando TrujilloMarina AlonsoClara Cases-CoronaAmir ShabakaJuan Francisco Quesada-EspinosaJosé Miguel Lezana RosalesEduardo GutiérrezGema Fernández-JuárezFernando Caravaca-Fontán Manuel Praga

Published in: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association (2024)

MKD is commonly found in ADAS and is associated with a worse kidney outcome. No pathogenic variants were found in genes other than COL4A3/COL4A4.

Keyphrases

chronic kidney disease
end stage renal disease
copy number
genome wide
bioinformatics analysis
genome wide identification
peritoneal dialysis
gene expression
dna methylation