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

Melissa Pilco TeranMelissa Pilco-TeranMarc PybusVíctor MartínezMiriam Aza-CarmonaAsunción RiusMaría Vanessa Pérez-GómezGerson BernáJaime MazoJonathan HernándezLeonor FayosElizabet VieraIgnasi GichHugo Vergara PérezElena Gomá GarcésJosé Luis Albero DolonElisabet ArsRoser 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
risk factors
epidermal growth factor receptor
early onset
genome wide