JAMA Clinical Reviews
Diagnosis, Treatment, and Prognosis of Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Adults
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.
22:33
Episode guests
AI Summary
AI Chapters
Episode notes
Podcast summary created with Snipd AI
Quick takeaways
- Autosomal Dominant Polycystic Kidney Disease (ADPKD) is primarily caused by genetic mutations and can lead to significant complications beyond the kidneys, necessitating early diagnosis and monitoring.
- Effective management of ADPKD involves lifestyle modifications and medications like Tolvaptan to slow disease progression and improve patient outcomes.
Deep dives
Understanding Polycystic Kidney Disease
Polycystic kidney disease (PKD) is characterized by the presence of multiple renal cysts, resulting from genetic mutations primarily in the PKD1 and PKD2 genes. These genes encode for proteins that function at the primary cilium, affecting cellular responses to environmental changes. As a consequence, cysts can also develop in other organs, such as the liver, leading to additional complications including aneurysms in blood vessels. PKD often presents as enlarged kidneys with dysfunctional flow sensing, making early identification crucial for managing patient outcomes.
Remember Everything You Learn from Podcasts
Save insights instantly, chat with episodes, and build lasting knowledge - all powered by AI.
