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.

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Kidney Week

Translational Session

APOL1, Nephrotic Syndrome, and HNF1B: Expanding Phenotypes and Mechanisms in Genetic Diseases

November 05, 2023 | 09:30 AM - 11:30 AM

Location: Room 107, Pennsylvania Convention Center

Session Description

More than 600 genes have been identified as causal or risk factors for kidney conditions that lead to developmental, glomerular, tubulointerstitial, and electrolyte disorders. In this session, we focus on the role of genomic variants in both kidney and extrakidney manifestations of these conditions and discuss the overlap between causal and risk variants in these genes and risk factors; for example, APOL1, NPHS1, COL4A, and HNF1B.

Learning Objective(s)

  • Define the molecular basis for extrakidney manifestations of hereditary nephrotic syndrome
  • Explain the clinical utility for APOL1 testing in management of CKD
  • Describe the role of common variants in mendelian disease genes as risk factors for CKD
  • Outline extrakidney manifestations of HNF1B mutation

Learning Pathway(s)

  • Genetic Diseases and Development
  • Pediatric Nephrology