Clinical and genetic characteristics of Dent's Disease type 1 in Europe.

Carla BurballaGerard Cantero-RecasensLarisa PrikhodinaFrancesca LuganiKarlpeter SchlingmannPetr V AnaninMartine BesouwDetlef BockenhauerLeire MadariagaAurelia Bertholet-ThomasFrancesca TaroniMattia ParolinPeter ConlonDorella DelpreteDominique ChauveauLinda Koster-KamphuisMarc FilaAndrea PasiniIsabel CastroGiacomo ColussiMarta GilBarian MohidinTanja WlodkowskiFranz SchaeferGema Aricetanull null

Published in: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association (2022)

Results from this large DD1 cohort confirm previous findings and provide new insights regarding age and genotype impact on CKD progression. Our data strongly support that DD1 should be considered in male patients with CKD, nephrocalcinosis/hypercalciuria and non-nephrotic proteinuria and provide additional support for new research opportunities.

Keyphrases

chronic kidney disease
electronic health record
genome wide
big data
machine learning
dna methylation