Purpose of review: To describe the recent increase in the understanding of the clinical manifestation of autosomal recessive polycystic kidney disease (ARPKD), which is caused by mutations in the PKHD1 gene. The change in nomenclature reflects the genetic contribution to the understanding of pleiotropic disease manifestations. The term 'hepatorenal fibrocystic disorder' or 'ARPKD-congenital hepatic fibrosis (CHF)' addresses the major organ manifestations of the disease.
Recent findings: More than 300 different mutations in the PKHD1 gene have been described; however, there is no genotype-phenotype correlation. Cystic phenotype in the kidneys is highly variable. Renal oligohydramnios before 28 weeks of gestation may be lethal, whereas perinatal manifestations have a better prognosis. More than 60% of neonates with pulmonary hypoplasia may survive; about 25% need postnatal dialysis. After 10 years, 60% require renal replacement therapy. Liver fibrosis is always found and cholangiodysplasia is common. The Caroli phenotype is seen in up to 80% with perinatal manifestation. Recurrent cholangitis and cirrhosis may require liver transplantation in about 10% of patients. Neurocognitive development is in the usual range of children with moderate renal failure, but deserves further research.
Summary: The pleiotropic manifestations of ARPKD-CHF require multidisciplinary efforts to anticipate organ complications and to improve a possible good prognosis.