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What is Polycystic Kidney Disease?

Polycystic kidney disease (PKD) is a genetic disorder characterised by the growth of multiple fluid-filled cysts on the kidney.

Unlike having a single cyst (or a few - less than five), this condition could be quite serious.

With this disease, the cysts can slowly replace much of the kidney tissue, reducing kidney function and ultimately lead to kidney failure.

This disease occurs in both children and adults.

Even if both parents do not show any sign of having the disease it is possible that they could be carriers. It can then be passed on to the child who may be afflicted with the disease from a young age. This condition is referred to as Autosomal Recessive and is also sometimes referred to as infantile polycystic kidney disease. This condition is rare and its signs and symptoms are usually apparent at birth or in early infancy. This condition is very difficult to treat and the mortality rate among infants with PKD is relatively high.

The more common form of this disease is called Autosomal Dominant polycystic kidney disease. It is generally a late onset disorder (occurs during adulthood) and is characterized by progressive cyst development and enlarged kidneys with multiple cysts. This is the most common life threatening genetic disease affecting over 13 million people worldwide.

 

Symptoms of PKD

There are many symptom associated with Autosomal Recessive (infantile) PKD. In most cases it can be diagnosed shortly after birth.
Some of the symptoms include anemia (a lower than normal number of red blood cells), high blood pressure, liver disease and enlarged kidneys that produce abdominal distension (swelling of the abdomen).

The symptoms of PKD in adults (Autosomal Dominant) would usually include high blood pressure and a gradual loss of kidney function. In addition, persons may experience back pains or abdominal pains.

People with PKD are more likely to develop kidney stones than people who do not have the disease. Some persons may only experience mild to moderate loss of kidney function. In most cases, however, adults with the disease eventually experience complete kidney failure (end stage renal disease).

 

DIAGNOSIS AND TREATMENT

An ultrasound examination of the kidneys is probably the most effective means of diagnosing this disease.
Computed Tomography scanning (CT scanning) and Magnetic Resonance Imaging (MRI) may also be used to locate cysts on the kidneys.

It is also possible to use DNA blood testing to detect mutations in the genes for PKD.

Since this disease is caused by an inherited genetic disorder it is difficult to treat.

Most of the treatments are generally focused on the symptoms. For example, hypertension is controlled with medication and diet, in order to preserve kidney function; urinary tract infections are treated with antibiotics, to prevent kidney damage.

If the cysts grow large enough and are causing bleeding, pain, infection or obstruction it may be necessary to drain them. This is done by inserting a needle, guided by ultrasound or x-rays, through the skin and into the cysts.

If polycystic kidney disease causes complete kidney failure, also known as end-stage renal failure, then this must be treated with dialysis or kidney transplant.

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