Polycystic Kidney Disease

Question 1

Pathophysiology:

How does it compromise function?

Where else may they have cysts?

Answer 1

The multiple kidney cysts grow and compress the kidney architecture and vasculature, compromising function.

Liver
Pancreas

Question 2

What type of disease is it?

Answer 2

Dominant *****
Recessive

There are different types!

Question 3

Clinical features:

What are they at increased risk of if the cysts are compressing the kidneys and growing?

Where will they have pain?

What will be detected or seen in urine?

Why do they get HTN?

Answer 3

Stones - lack of flow out of the kidneys
Haemorrhage
UTI - lack of flow out of the kidneys

Haematuria

High blood pressure develops early in the course of the disease and is caused by the activation of the renin-angiotensin-aldosterone system (RAAS) and other significant pathogenic mechanisms.

Question 4

Investigations:

What imaging is used?

What can be done if imaging is unclear?

Answer 4

USS
CT
MRI

Genetic testing

Question 5

Management:

What can be done to the cysts themselves?

Answer 5

They can be aspirated under CT guidance

Question 6

Complications:

What intracranial pathology are they susceptible to?

Answer 6

Aneurysms leading to SAH

Question 7

Alport syndrome:

What type of genetic disease is this?

Answer 7

X-linked - Females are carriers

Alport syndromeis a genetic condition characterized by kidneydisease, hearing loss, and eye abnormalities. People withAlport syndromeexperience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys.

Affects the membranes in these areas.