OBJECTIVE We designed a longitudinal clinical database for autosomal recessive polycystic kidney disease (ARPKD), recruited patients from pediatric nephrology centers in the United States and Canada, and examined their clinical morbidities and survival characteristics. We initially targeted enrollment to children who were born and diagnosed after January 1, 1990, so as to capture a cohort that ...

Caroli's disease belongs to a group of hepatic fibropolycystic diseases and is a hepatic manifestation of autosomal recessive polycystic kidney disease (ARPKD). It is a congenital disorder characterized by segmental saccular dilatations of the large intrahepatic bile duct and is frequently associated with congenital hepatic fibrosis (CHF). The most viable theory explaining its pathogenesis sugg...

The hepatorenal fibrocystic (HRFC) syndromes are a heterogeneous group of severe monogenic conditions that may be detected before birth. Commonly, HRFC syndromes present in the neonatal and paediatric age, with consistent developmental abnormalities mostly involving the liver and kidney. The changes include the proliferation and dilatation of epithelial ducts in these tissues with abnormal depo...

Congenital hepatic fibrosis (CHF) is associated with autosomal recessive polycystic kidney disease (ARPKD). Although cystic renal dysplasia (CRD) is the most common form of newborn cystic renal disease, this disorder of anomalous metanephric differentiation is only rarely found concurrent with CHF. Our literature review found only 13 sporadic and 12 familial non-syndromic cases of combined bila...

Fibrocystin/polyductin (FPC), the gene product of PKHD1, is responsible for autosomal recessive polycystic kidney disease (ARPKD). This disease is characterized by symmetrically large kidneys with ectasia of collecting ducts. In the kidney, FPC predominantly localizes to the apical domain of tubule cells, where it associates with the basal bodies/primary cilia; however, the functional role of t...

Autosomal recessive polycystic kidney disease (ARPKD) is an inherited ciliopathy leading to progressive kidney and liver disease. Biallelic mutations in the PKHD1 gene underlie this condition. We describe a child with bilaterally enlarged cystic kidneys, portal hypertension, and cerebral ventriculomegaly. Molecular genetic investigations using whole-exome sequencing and confirmation using Sange...

Polycystic kidneys diseases (PKD) are a group of monogenic kidney disorders that lead to cyst development in the kidneys. Polycystic kidney diseases are a common indication for renal transplantation and dialysis and a leading cause of end-stage renal disease (ESRD). There are two types of PKD, the autosomal dominant type called ADPKD with an estimated prevalence rate of 1:400-1:1000 worldwide (...

Autosomal recessive polycystic kidney disease (ARPKD) is characterized by the progressive dilatation of collecting ducts, the nephron segments responsible for the final renal regulation of sodium, potassium, acid-base, and water balance. Murine models of ARPKD possess mutations in genes encoding cilia-associated proteins, including Tg737 in orpk mice. New findings implicate defects in structure...

Autosomal recessive polycystic kidney disease (ARPKD), a rare monogenic disorder with an incidence of 1:20,000 live births, is characterized by massive bilateral kidney enlargement due to cystic dilation of the renal tubules.1 In addition, liver cysts and hepatic fibrosis are also observed in patients with ARPKD. In neonates and infants, ARPKD manifests as severe kidney failure in utero, oligoh...