Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.

Guillaume DorvalCécile JeanpierreVincent MorinièreCarole TournantBettina BessièresTania Attié-BittachJeanne AmielEmmanuel SpaggariYves VilleElodie MerieauMarie-Claire GublerSophie SaunierLaurence Heidet

Published in: Pediatric nephrology (Berlin, Germany) (2021)

These data show that the PMM2 promotor variation, in trans of a PMM2 coding mutation, is associated with a wide spectrum of kidney phenotypes, and is not always associated with extra-renal symptoms. When present, extra-renal defects may include COACH-like syndrome. These data prompt screening of PMM2 in unresolved cases of fetal hyperechogenic/cystic kidneys as well as in cystic kidney disease in children and adults. Graphical Abstract.

Keyphrases

electronic health record
big data
young adults
data analysis
sleep quality
deep learning