A person with Polycystic Kidney Disease is suffering from a genetic condition that they were born with. This condition causes a person to develop a potentially large number of cysts in their kidneys. Cysts in the kidney are growths that are filled with fluid that develop within the interior of the kidneys.
When a person has polycystic kidney disease, clusters of these cysts can develop. The cysts can vary greatly in size and number. Some fill with a great deal of fluid and grow very large while others remain small. This condition may also cause a person to develop cysts elsewhere in the body as well, but the largest concentration of cysts is usually in the kidneys.
Polycystic kidney disease can cause a disruption in the proper function of the kidneys depending on how large cysts are and how many there are. This disorder is inherited genetically from a person’s parents. An autosomal dominant inheritance pattern is the most common type of polycystic kidney disease. This means that one parent with the genetic mutation passes it on to their child. Autosomal recessive inheritance of polycystic kidney disease occurs when a person inherits the gene mutation from both parents.
Symptoms of polycystic kidney disease may not arise until well into childhood or even adulthood. Pain is one sign of this condition, specifically in the lower back or side. Other symptoms can include abdominal swelling, headaches, high blood pressure, and urination issues like blood in the urine or frequent urination. Kidney stones and even kidney failure or brain aneurysms can also occur as a result of polycystic kidney disease.
Both forms of polycystic kidney disease are caused by mutations in the PKD gene that are typically inherited from one or both biological parents. The vast majority of cases are the result of these inherited mutations, but there are some cases where neither parent carries the mutation and it happens spontaneously.
The mutation that causes the condition depends on the form an individual is diagnosed with.
In the autosomal dominant form of polycystic kidney disease, only one parent has to pass on the mutation for the condition to occur. Nine out of ten people who are diagnosed with polycystic kidney disease are diagnosed with the autosomal dominant form, which makes it the most common form of polycystic kidney disease by far.
Both parents have to pass on the mutation for a child to be affected by the autosomal recessive form. While doctors do know what the specific mutations are, they are still studying some of the factors that cause them to occur.
Because polycystic kidney disease is a genetic disease, it cannot be cured. However, it can be managed and the symptoms and complications can be dealt with. If the affected person suffers from high blood pressure, it can be managed with diet as well as prescription blood pressure medications. UTIs and other infections can be treated with antibiotics. If pain is severe or a person’s cysts become obstructive, surgery could be recommended to remove the cysts. Aneurysms and kidney failure are among the most severe complications of polycystic kidney disease and may also require surgery up to and including a kidney transplant.
Because polycystic kidney disease is a genetic condition, there is no way to prevent it from happening.
Individuals with a family history of the condition are encouraged to seek genetic testing to see if they carry the mutation. The testing cannot tell doctors when symptoms will start showing up or how severe the disease will ultimately be. In the case of the autosomal dominant form, however, earlier detection gives younger people the chance to slow down and possibly prevent the onset of the kidney failure the condition normally results in. They can do this by changing their diet and controlling their blood pressure.
Genetic counseling is encouraged before individuals with a family history of the polycystic kidney disease attempt having children to assess the risk of passing the condition on to them.