Hello and welcome to the Zero to Finals podcast.

My name is Tom and in this episode I'm going to be talking to you about polycystic kidney disease.

And you can find written notes on this topic at zero to finals.com slash PKD

or in the renal medicine section of the second edition of the zero to finals medicine book.

And you can find flashcards and questions to train your knowledge on this content

and help you remember it longer at members.0 to finals.com.

So let's get straight into it.

Polycystic kidney disease is a genetic condition where the healthy kidney tissue is replaced

with many fluid-filled cysts.

The enlarged kidneys may be palpable on examination of the abdomen.

Polycystic kidney disease leads to renal failure.

There are two types of polycystic kidney disease leads to renal failure. There are two types of polycystic kidney disease, autosomal dominant and autosomal recessive. The autosomal dominant type is more common.

Let's start by talking about autosomal dominant polycystic kidney disease. The affected genes in the

autosomal dominant type are the PKD1 gene on chromosome 16 in 85% of cases and the

PKD2 gene on chromosome 4 in the remaining 15% of cases.

There are extra renal manifestations, meaning features that occur outside of the kidneys,

and these include cerebral aneurysms,

cysts elsewhere in the body, including the liver, spleen, pancreas, ovaries and prostate,

mitral regurgitation in the heart, and colonic diverticular. Complications include chronic

loin or flank pain, hypertension or raised blood pressure, gross hematuria, meaning bright red blood in the urine,

which can occur with cyst rupture and usually resolves within a few days,

recurrent urinary tract infections, kidney stones, and end-stage renal failure occurs at an average

...