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
Moderators
- Erum Aftab Hartung, MD, MS
- Changlin Mei, MD, PhD
Presentations
- 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
