More dissimilarities than affinities between DNAJB11-PKD and ADPKD.

Isabella Pisani Marco AllinoviViviana PalazzoPaola ZanelliMicaela GentileMaria Teresa FarinaSara GiuliottiPaolo CravediMarco DelsanteUmberto MaggioreEnrico FiaccadoriLucio Manenti

Published in: Clinical kidney journal (2022)

Overall, clinical features of DNAJB11-PKD were more subtle compared with those of ADPKD. DNAJB11-PKD shows a unique renal and extrarenal phenotype, clinical presentation and natural history. Therefore our data support that this genetic disease is classified separately from ADPKD.

Keyphrases

polycystic kidney disease
electronic health record
big data
copy number
machine learning