Polycystic Kidney Disease (PKD) - Symptoms & Causes

What is polycystic kidney disease (PKD)?

Polycystic kidney disease (PKD) is an inherited condition characterised by the growth of cysts (sacs of fluid) on the kidneys. PKD can affect both kidneys, with cysts growing and multiplying until they constrict the healthy kidney tissues and affect kidney function. It can cause hypertension, kidney stones, frequent urinary tract infections and brain aneurysms (abnormal dilation of brain arteries).

Types of polycystic kidney disease

Autosomal dominant polycystic kidney disease. This is a common type that is sometimes known as adult polycystic kidney disease, although children can develop it. While symptoms of adult PKD usually start to show between ages 30 and 40, some people start to experience adult PKD symptoms as a child.
Autosomal recessive polycystic kidney disease. This type of PKD is sometimes known as infantile PKD, and it is a rare genetic disorder affecting 1 in 20,000 children. In this type of PKD, the kidney becomes enlarged due to fluid-filled kidney cysts. This disease can be diagnosed early in life. Signs of this disease can already appear while in the womb or during the first few months of life.

What are the symptoms of polycystic kidney disease (PKD)?

The symptoms of PKD include:

Blood in the urine
High blood pressure
Pain in the back and sides
Upper abdominal pain associated with liver and pancreatic cysts
Urinary tract infections

If you experience any symptoms of PKD, it is important to see a doctor immediately, especially if you have first-degree relatives with the disease. Early screening for this disorder is helpful in managing the condition.

What are the causes of polycystic kidney disease (PKD)?

Polycystic kidney disease is an inherited kidney disease, whereby the abnormal genes causing the disease are passed down from the parents to their offspring. In some cases, a genetic mutation may occur on its own.

What are the risk factors for polycystic kidney disease (PKD)?

There are 2 risk factors associated to polycystic kidney disease. They include:

Dominant inheritance. If your parent has the disease, the abnormal gene may be passed on to you through dominant inheritance. With this, there is a 50% likelihood of you getting PKD.
Recessive inheritance. If both of your parents have the abnormal gene, they can pass this to you through recessive inheritance. With this, there is a 25% chance of you getting the disease.

Polycystic kidney disease may lead to several health complications, including:

Kidney disease and failure. Your kidneys may gradually lose their filtering ability. End-stage kidney disease that requires dialysis or a kidney transplant to sustain life may occur if kidney function deteriorates to less than 10% of normal capacity.
Cyst in liver. If you have polycystic kidney disease, your risk of developing liver cysts increases with age. Women often develop bigger cysts as female hormones and having multiple pregnancies are related to the development of a cyst in the liver.
Brain aneurysm. Having PKD increases your risk of getting a brain aneurysm, a balloon-like bulge in the blood vessel.
Heart valve problems. Polycystic kidney disease increases the risk of developing mitral valve prolapse. In this condition, the heart valve cannot properly close, prompting blood to leak backward.
Diverticulosis. If you have polycystic kidney disease, pockets known as diverticula can develop in the walls of your digestive tract.
Others. Patients with polycystic kidney disease are also at greater risk for certain types of kidney stones and certain forms of kidney tumours. Your nephrologist can recognise and manage these complications.

How do you prevent polycystic kidney disease (PKD)?

Since polycystic kidney disease is an inherited disease, there is no medical way to prevent it. However, maintaining healthy kidneys can help prevent the complications.

Here are several ways you can protect your kidneys: