Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants.

Monica Furlano Melissa Pilco TeranMarc PybusVíctor MartínezMiriam Aza-CarmonaAsunción Rius PerisMaría Vanessa Pérez-GómezGerson BernáJaime MazonJonathan HernándezLeonor Fayos de ArizónElizabet VieraIgnasi GichHugo Vergara PérezElena Gomá-GarcésJosé Luis Albero DolonElisabet Ars Roser Torra

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

Individuals with COL4A3/COL4A4 P/LP variants are prone to develop KC more frequently than the general population, and their presence is related to age and to eGFR. Neither proteinuria, sex nor the causative gene influences the presence of KC in these individuals.

Keyphrases

copy number
small cell lung cancer
epidermal growth factor receptor
genome wide
early onset
dna methylation
gene expression
genome wide analysis