Genotype–phenotype correlation in children with autosomal dominant polycystic kidney disease

Abstract

Adults with autosomal dominant polycystic kidney disease (ADPKD) and PKD1 mutations have a more severe disease than do patients with PKD2 mutations. The aim of this study was to compare phenotypes between children with mutations in the PKD1/PKD2 genes.

Keywords

• Autosomal dominant polycystic kidney disease
• PKD1 gene
• PKD2 gene
• Renal function
• Ultrasound
• Blood pressure
• Hipertension
• Children