ASN's Mission

To create a world without kidney diseases, the ASN Alliance for Kidney Health elevates care by educating and informing, driving breakthroughs and innovation, and advocating for policies that create transformative changes in kidney medicine throughout the world.

learn more

Contact ASN

1401 H St, NW, Ste 900, Washington, DC 20005


The Latest on X

Kidney Week

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