Hello and welcome to the zero to finals podcast. My name is Tom and in this episode I'm going to be

talking you through polycystic kidney disease. And if you want to follow along with written notes on

this topic, you can follow along at zero definals.com slash pkd or in the renal section of the zero to finals medicine book.

So let's get straight into it.

Polyscystic kidney disease is a genetic condition

where the kidneys develop multiple fluid-filled cysts.

Kidney function is also significantly impaired.

There are a number of associated findings outside the kidneys, such as hepatic cysts or cysts in the liver,

and cerebral aneurysms,

which are the abnormalities in blood vessels in the brain.

When you examine the patient,

you'll be able to feel palpable in large kidneys,

and diagnosis is by doing a kidney ultrasound scan and genetic testing. There's an autosomal

dominant and an autosomal recessive type. The autosomal dominant type of polycystic kidney disease

is more common than the autosomal recessive of polycystic kidney disease is more common than the autosomal

recessive type and the recessive type is more severe. Often the autosomal dominant type is called

adult polycystic kidney disease because it doesn't usually present until adulthood. First let's

talk about the autosomal dominant type. There's two genes that you need to be

aware of. PKD1 is the first gene, and this is located on chromosome 16 and is responsible for about

85% of cases. And PKD2 is located on chromosome 4 and is responsible for about 15% of cases.

Like we talked about, there's a few extra renal manifestations.

The first is cerebral aneurysms, which are abnormal bulging, weakened areas in the walls of the arteries

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