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

Moderators

• Kaye E. Brathwaite, MD
• Jennifer R. Charlton, MD, MS

Presentations

• Molecular Mechanisms of Extrakidney Manifestations of Hereditary Nephrotic Syndrome
  09:30 AM - 10:00 AM
  
  • Nina Mann, MD
  Nina Mann, MD

Molecular Mechanisms of Extrakidney Manifestations of Hereditary Nephrotic Syndrome

November 05, 2023 | 09:30 AM - 10:00 AM

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• Integrating APOL1 Testing into Clinical Practice
  10:00 AM - 10:30 AM
  
  • Kate Bramham, MBBS, PhD
  Kate Bramham, MBBS, PhD

Integrating APOL1 Testing into Clinical Practice

November 05, 2023 | 10:00 AM - 10:30 AM

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• The Many Faces of HNF1B Mutations
  10:30 AM - 11:00 AM
  
  • Claudia Izzi, MD
  Claudia Izzi, MD

The Many Faces of HNF1B Mutations

November 05, 2023 | 10:30 AM - 11:00 AM

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• Common Variants in Mendelian Disease Genes as Risk Factors for CKD
  11:00 AM - 11:30 AM
  
  • Tomoko Horinouchi, MD, PhD
  Tomoko Horinouchi, MD, PhD

Common Variants in Mendelian Disease Genes as Risk Factors for CKD

November 05, 2023 | 11:00 AM - 11:30 AM

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