ILOs

• describe the pathophysiology, diagnosis and presentation of adult polycystic kidney disease
• understand the associations with and consequences of adult polycystic kidney disease
• overview of Alport’s Syndrome and Fabry Disease

• Here’s a diagram showing the spectrum of inherited cystic renal disease…

Adult Polycystic Kidney Disease

• Here’s some excised kidneys that have APKD…
• Outline the epidemiology of APKD, and the gene mutations associated with it…
• What are the PKD1 and 2 genes, and how can they be affected in APKD?
• How does APKD present and then go on to develop? And what are the extra-renal manifestations?
• So, how do we diagnose APKD?
• Look at a CT showing us APKD…
• Alright. How do we manage APKD then?
• What is tolvaptan? Is it useful in APKD management?
• Let’s talk about Paul, the patient.
• Then, what happened?

Other Genetic Renal Diseases

• Explain what Alport’s Syndrome is, what it is caused by, how it is passed down and the consequences of it…
• Look at the electron microscopy imaging of the progression of Alport’s Syndrome…