Autosomal recessive polycystic kidney disease (ARPKD) is a rare disorder and one of the
most severe forms of polycystic kidney disease, leading to end-stage renal disease (ESRD) …

Thousands of pathogenic variants in more than 100 genes can cause kidney cysts with
substantial variability in phenotype and risk of subsequent kidney failure. Despite an …

Background Height-adjusted total kidney volume (htTKV) measured by imaging defined as
Mayo Imaging Class (MIC) is a validated prognostic measure for autosomal dominant …

Biliary abnormalities in children are uncommon, and the spectrum of biliary disorders is
broader than in adult patients. Unlike in adults, biliary disorders in children are rarely …

Introduction Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic
disorder. The PKD1 gene is responsible for the majority of ADPKD cases, and the mutations …

Introduction: Over the past decades, a large amount of both adult and pediatric data has
shown relationship between Nonalcoholic Fatty Liver Disease (NAFLD) and chronic kidney …

Cystic kidney disease comprises a broad group of heterogeneous diseases, which differ
greatly in age at onset, disease manifestation, systemic involvement, disease progression …

Background Autosomal recessive polycystic kidney disease (ARPKD), a rare genetic
disorder characterized by kidney cysts, shows complex clinical and genetic heterogeneity …

Loss of PKHD1-gene function causes autosomal recessive polycystic kidney disease
(ARPKD) characterized by bilateral severely enlarged kidneys and congenital liver fibrosis …

Background To investigate whether the novel mutation of PKHD1 could cause polycystic
kidney disease by affecting splicing with a recessive inheritance pattern. Methods A …