Cystic kidneys are common causes of end-stage renal disease, both in children and in
adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive …

Renal cysts are clinically and genetically heterogeneous conditions. Polycystic kidney
disease (PKD) is common and its characterization has paved the way for the identification of …

Approximately 500 monogenic causes of chronic kidney disease (CKD) have been
identified, mainly in pediatric populations. The frequency of monogenic causes among …

Autosomal recessive polycystic kidney disease (ARPKD), usually considered to be a
genetically homogeneous disease caused by mutations in PKHD1, has been associated …

To investigate the pathogenesis of a congenital form of hepatic fibrosis, human hepatic
organoids were engineered to express the most common causative mutation for Autosomal …

Autosomal recessive polycystic kidney disease (ARPKD) is a hepatorenal fibrocystic
disorder that is characterized by enlarged kidneys with progressive loss of renal function …

MIM 263200) is a severe, typically early-onset form of cystic disease that primarily involves
the kidneys and biliary tract. Phenotypic expression and age at presentation can be quite …

Cystic kidney diseases are among the most frequent lethal genetic diseases. Positional
cloning of novel cystic kidney disease genes revealed that their products (cystoproteins) are …

Autosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early
childhood that is clinically characterized by fibrocystic changes of the kidneys and the liver …

The autosomal recessive form of polycystic kidney disease (ARPKD) is generally considered
an infantile disorder with the typical presentation of greatly enlarged echogenic kidneys …