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Congenital hepatic fibrosis in autosomal recessive polycystic kidney disease

Jessica Wen1

  • 1Division of Gastroenterology, Hepatology & Nutrition, The Children's Hospital of Philadelphia, Pennsylvania, USA. wenj@email.chop.edu

Clinical and Translational Science
|January 4, 2012
PubMed

Insights

Autosomal recessive polycystic kidney disease (ARPKD) causes enlarged kidneys and liver issues. This review explores ARPKD

Area of Science:

  • Pediatric Nephrology
  • Hepatology
  • Developmental Biology

Background:

  • Autosomal recessive polycystic kidney disease (ARPKD) is a genetic disorder impacting kidneys and liver.
  • Characterized by enlarged, cystic kidneys and congenital hepatic fibrosis (CHF) with bile duct dilation and fibrosis.
  • Liver complications significantly affect patient morbidity and mortality.

Purpose of the Study:

  • To review current knowledge on ARPKD-associated liver disease.
  • To highlight research on the pathogenesis of liver manifestations in ARPKD.
  • To discuss potential therapeutic strategies for ARPKD liver disease.

Main Methods:

  • Literature review of preclinical and clinical studies.
  • Analysis of genetic and molecular mechanisms underlying ARPKD.
  • Synthesis of findings on liver pathology and clinical outcomes.

Main Results:

  • ARPKD involves biliary dysgenesis, leading to CHF.
  • Genetic mutations in PKHD1 are implicated in the disease's pathogenesis.
  • Fibrosis and portal hypertension are common complications.

Conclusions:

  • Understanding ARPKD liver disease pathogenesis is crucial for effective treatment.
  • Targeting fibrotic pathways and bile duct abnormalities shows therapeutic promise.
  • Further research is needed to develop targeted therapies for ARPKD liver complications.

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