Genetics of chronic kidney disease and stroke

Clinicians caring for patients with stroke appreciate the overlap of chronic kidney disease (CKD), with a near 35% co-occurrence.1 CKD imparts an increased risk of stroke and worse outcome for a multitude of reasons: enhanced endothelial injury and atherosclerosis, increased blood pressure variability, altered pharmacology (e.g., anticoagulation), and disrupted blood chemistry (e.g., increased homocysteine, urea). Furthermore, kidney disease and stroke share underlying causes including hypertension, diabetes, atherosclerosis, and vasculitis. Disentangling the genetics of stroke and CKD has been challenging. Some uncommon genetic conditions such as Fabry disease, COL4A1, and hereditary endotheliopathy, retinopathy, nephropathy, and stroke (HERNS) cause both CKD and stroke. A polygenetic overlap between large artery stroke and CKD has also been reported.2