COL4A gene variants are common in children with hematuria and a family history of kidney disease.
Michelle N RheaultHeather M McLaughlinAsia MitchellLauren E BlakePrasad DevarajanBradley A WaradyKeisha L GibsonKenneth V LiebermanPublished in: Pediatric nephrology (Berlin, Germany) (2023)
Children with hematuria and a family history of CKD have a high likelihood of being diagnosed with a monogenic cause of kidney disease, identified through KIDNEYCODE panel testing, particularly COL4A variants. Early genetic diagnosis can be valuable in targeting appropriate therapy and identification of other at-risk family members. A higher resolution version of the Graphical abstract is available as Supplementary information.