Aim: To compare the phenotype of children with ADPKD caused by mutations in the PKD1
and PKD2 genes. Methods: Out of 260 patients from the registry of children with ADPKD, 60 …

Sažetak Despite the claims that mutations in PKD2 have a mild clinical presentation, our
patient developed early onset ADPKD with fatal outcome. At the other hand, some other …

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 …

Mutational analysis within the 3′ region of the PKD1 gene. Background Autosomal
dominant polycystic kidney disease (ADPKD) is one of the most common genetic diseases …

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 …

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the
development and progressive enlargement of cysts in the kidneys. The diagnosis of ADPKD …

Introduction Valid prediction models or predictors of disease progression in children and
young patients with autosomal dominant polycystic kidney disease (ADPKD) are lacking …

Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common
hereditary renal disease. The disease is caused by mutations of the PKD1 (affecting roughly …

Autosomal dominant polycystic kidney disease over the past four years, a limited number of
PKD1 (ADPKD) is a systemic disorder characterized by the mutations has been reported …

A complete mutation screen of the ADPKD genes by DHPLC. Background Genetic analysis
is a useful diagnostic tool in autosomal dominant polycystic kidney disease (ADPKD) …