Autosomal Dominant Polycystic Kidney Disease has several manifestations which are not confined to the kidney. These manifestations include the following.
It is very common for patients to have cysts on other organs of the body. The most common organ to find cysts other than in the kidney is the liver. Cysts in the liver may produce pain and patients may have bleeding into these cysts however the liver function is not usually affected. However in patients who have the recessive type of polycystic kidney disease usually seen in children there may be fibrosis of the liver. Cysts may also be found in the pancreas intestine and in the muscles.
Patients with polycystic kidney disease may also have a floppy heart valve known as mitral valve prolapse. This is usually detected as an unsual sound heard when a physician listens to the heart beat.
Symptoms of Mitral valve prolapse tend to develop gradually and include.
- A racing or irregular heartbeat.
- Dizziness or lightheadedness.
- Difficulty breathing.
- Chest pain.
However the vast majority of patients with mitral valve prolapse have no symptoms, lead perfectly normal lives and will never know they have this condition.
Patients with polycystic kidney disease may also have dilation of the main artery the aorta this is called an aneurysm. Symptoms of an aortic aneurysm include a pulsatile mass within the abdomen and abdominal pain. If the aortic dilatation involves the aortic valve they may have a more serious presentation including acute heart failure.
The dilatations of blood vessels are a feature of polycystic kidney disease and may also occur in the brain and heart. When occurring in the brain patients are at increased risk of stroke. Stroke may occur at any age although usually a devastating complication the aneurysm may be detected by a special type of MRI. The question however is who should receive screening for these aneurysms and when. Few Guidelines exist however a reasonable approach would be to screen patients who have a family history of stroke, patients who have to be on a blood thinner for any reason or who have an acquired disorder of clotting that would increase their risk of bleeding and those with severe hypertension as that increases the risk of bleeding.