Polycystic kidney disease or PKD is a condition in which cysts form in the kidneys. Eventually, if allowed to grow and multiply, these cysts can stop the kidneys from doing the vital job of filtering waste from the blood.
There are two forms of PKD, both of which are genetic. In the more common form of the disease, autosomal dominant PKD, a parent who has the disease has a 50-percent chance of passing the disease to his or her offspring. To date, two different genes have been identified as causing ADPKD.
The great majority 85 percent have a mutation on chromosome 16. This is known as the PKD1 gene. The other 15 percent have a mutation on chromosome 4 known as PKD2. The impact of a PKD1 mutation often strikes earlier than PKD2 and is more severe.
In the rarer form of the disease, autosomal recessive PKD, both parents have to be carriers of an abnormal gene and pass them to the child. There is a 25-percent chance of the child then developing the disease.
When PKD first begins to develop, there may be no symptoms. As the disease progresses, affected individuals will first experience high blood pressure, pain or a heaviness in the back, sides or abdomen. From there, they may develop urinary tract infections, kidney stones and hematuria (blood in the urine).
The symptoms change as the cysts develop and grow. In some cases, cysts can then begin to develop in other organs, primarily the liver. If not cared for properly, PKD can also bring on more severe cardiovascular complications including aneurysm and mitral valve prolapse.
Gastrointestinal complications such as diverticulitis (development of pouches in the colon) are a risk as well.
About half of people with PKD go on to experience kidney failure and may need to turn to dialysis or even a transplant.
Because PKD is genetic, it cannot be prevented, but you may be able to reduce the risk of passing on the disease or preventing the disease from progressing.
If you have PKD or a family history of the disease, a genetic counselor may be able to perform genetic testing and work with you to determine the risk of passing the disease onto your child.
If you have been tested and carry the genetic mutation, early steps to protect your kidneys and keep them healthy can prevent the disease from progressing and becoming dangerous.
First and foremost, blood pressure should be kept under control. High blood pressure is one of the first identifiable characteristics of the disease and can start the downward spiral of additional complications.
Diet is also key to preventing PKD from worsening. One major recommendation is to control salt intake. The kidneys are responsible for filtering fluids from the body and excess sodium can cause fluids to build up. When the kidneys are struggling to work properly, sodium and fluids build up more easily and cause blood pressure to rise.
Regular exercise and reducing stress will also go a long way to keeping PKD from progressing.