Translational Session
Collagen IV Conundrums: Genetic Variants and Clinical Management
November 03, 2023 | 10:30 AM - 12:30 PM
Location: Room 204, Pennsylvania Convention Center
Session Description
This session focuses on the reported high frequency of pathogenic or likely pathogenic variants in the Alport genes (COL4A3, COL4A4, and COL4A5) in genetic sequencing studies. It addresses the following questions that are encountered in the clinical setting for children and adults. Do these variants in collagen IV genes always cause glomerular phenotypes? When should genetic screening be performed? How should patients be managed?
ASN thanks the European Renal Association (ERA) and ERA Ambassador, Dr. Roser Torra.
Session support is provided by an educational grant from Travere Therapeutics, Inc.
Learning Objective(s)
- Outline the clinical spectrum associated with variants in Alport genes (COL4A3, COL4A4, COL4A5) and when to consider genetic testing
- Explain genetic test results and the process of variant interpretation
- Discuss when treatment is indicated in adults and children
- Describe emerging treatment options for collagen IV disorders
Learning Pathway(s)
- Glomerular Diseases
- Genetic Diseases and Development
Moderators
Presentations
- When to Consider Testing Collagen Genes in General Nephrology Practice
10:30 AM - 11:00 AM
- Genetic Associations with Hematuria and Albuminuria Highlight Type IV Collagen
11:00 AM - 11:30 AM
- Do All Collagen Variants Cause Glomerular Disease?
11:30 AM - 12:00 PM
- Current and Emerging Therapies: How, When, and Who to Treat with a Collagen Variant
12:00 PM - 12:30 PM