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ASN leads the fight to prevent, treat, and cure kidney diseases throughout the world by educating health professionals and scientists, advancing research and innovation, communicating new knowledge, and advocating for the highest quality care for patients.

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Kidney Week

Basic/Clinical Science Session

ARPKD: Big Cysts in Little Kids

October 22, 2020 | 10:30 AM - 12:30 PM

Location: Simulive

Session Description

Autosomal recessive polycystic kidney disease (ARPKD) is among the most common monogenic causes of kidney failure in children. No treatment currently exists except dialysis and kidney transplantation. Mutations of PKHD1, encoding the ciliary protein fibrocystin, are responsible for most cases of ARPKD. This session provides an update on ARPKD research, including identification of new genes that cause ARPKD and related ciliopathies, insights into the cellular functions of fibrocystin, imaging and other clinical biomarkers to monitor disease progression, and the use of organoids to model ARPKD pathogenesis.

Learning Objective(s)

  • Identify the genes that cause ARPKD and related ciliopathies
  • Discuss the functions of fibrocystin
  • Describe how biomarkers of ARPKD have been identified from animal studies and patient registries
  • Explain how organoids can be used to model disease and screen for therapies

Learning Pathway(s)

  • Genetic Diseases of the Kidneys
  • Development and Pediatrics


  • Erum Aftab Hartung, MD, MS
  • Changlin Mei, MD, PhD


  • Genes That Cause ARPKD and Related Ciliopathies
    10:30 AM - 11:00 AM
    Friedhelm Hildebrandt, MD
  • What Does Fibrocystin Do?
    11:00 AM - 11:30 AM
    Lisa M. Guay-Woodford, MD
  • Organoids Provide Insights into ARPKD Pathogenesis and Treatment
    11:30 AM - 12:00 PM
    Ryuji Morizane, MD, PhD
  • Clinical Biomarkers and Prognosis of ARPKD
    12:00 PM - 12:30 PM
    Katherine MacRae Dell, MD