Background: Genetic variants causing diseases with hypertension as a secondary feature
have previously been identified. Studies focussing on primary hypertension have utilised …

Targeted RNAseq from patients' urinary cells to validate pathogenic noncoding variants in
autosomal dominant polycystic kidney disease genes: a proof of concept Targeted RNAseq from …

Introduction Aortic root dilatation is a reported cardiovascular sequela seen in children and
young people (CYP) with chronic kidney disease (CKD) but has yet to be described in those …

Background Caroli syndrome or Caroli disease is characterized by focal dilation of the
intrahepatic bile ducts, with or without congenital liver fibrosis. Mutations in the WDR19 gene …

Objectives: Identify the etiologies of polycystic kidney disease. Describe the presentations of
polycystic kidney disease. Review the treatment options for polycystic kidney disease …