JAMA Clinical Reviews Diagnosis, Treatment, and Prognosis of Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Adults
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Mar 24, 2025 Nerra Dahl, a renowned professor at Mayo Clinic and director of the Polycystic Kidney Disease Foundation Center of Excellence, dives into the complexities of Autosomal Dominant Polycystic Kidney Disease (ADPKD). She discusses the genetic underpinnings of the disease and its impact on kidney function, emphasizing the importance of genetic testing for effective diagnosis. The conversation also highlights innovative treatments like Tolvaptan, the significance of monitoring intracranial aneurysms, and promising advances in kidney transplantation outcomes for ADPKD patients.
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Polycystic Kidney Disease Genetics
- Polycystic kidney disease (PKD) is caused by mutations in PKD1 or PKD2 genes, impacting polycystin proteins.
- These proteins, crucial for sensing environmental changes, affect various organs like kidneys, liver, and blood vessels.
De Novo Mutations in PKD
- While PKD is inherited dominantly, 20% of cases arise from new mutations, presenting later.
- These patients might show more genetic variability and milder or more severe disease.
Differentiating Incidental Cysts from PKD
- To differentiate incidental cysts from PKD, consider age, kidney size, and cyst quantity.
- Genetic testing confirms diagnosis when imaging is inconclusive.