Polycystic Kidney Disease
Polycystic kidney disease (PKD) is when a group of cysts forms on the kidneys. The cysts are round sacs that are fluid filled and continue to grow when fluid gathers in them. When this happens, the kidneys will grow bigger as well, causing serious health complications.
Health Effects of PKD
The cysts that grow on the kidneys can cause the individual to feel pain in the back and abdominal area because of their size. The person may also experience blood in their urine, high blood pressure, bowel infections, brain aneurysm, kidney failure and/or headaches. If a person is experiencing any of these symptoms, an ultrasound, CT scan or MRI can pick up on any abnormalities on the kidneys.
Being a Carrier of the Disease
If an individual’s parent is a carrier of the disease, there is a 50 percent chance of it passing on to the individual. However, most cases of PKD are not diagnosed until adulthood, but children and teenagers can develop symptoms. In addition, a person may inherit the disease from a relative, since it is a genetic disorder.
Carrier DNA Tests for Polycystic Kidney Disease
The majority of people who have PKD inherited it from a parent, but in some cases, the disease can form on its own. The gene mutation, a permanent change in the DNA, causes proteins to not work properly, possibly resulting in a genetic disease. If someone has a parent who has the disease and is interested to know if he or she also carries it, then DNA testing is an option.
However, Carrier DNA tests for Polycystic Kidney Disease is very expensive. Some insurance companies cover some or part of the cost, but if they do not, then the test could cost anywhere from three to four thousand dollars. The geneticist will either take a blood test or a saliva sample from the individual, but 15 percent of cases are not diagnosed. The DNA is examined for the mutated genes associated with PKD. Results can take anywhere from six weeks to several months, and even if the individual is found to have the disease, the severity of their symptoms are unknown and neither is a cure.
Why DNA Polycystic Disease testing?
Many carriers of the disease, especially women, would be interested to know if they carry the mutated gene, especially if they plan on having a family in the future. DNA testing would help them make a decision. Eighty percent of woman have successful pregnancies, but some women are at risk for health complications. High blood pressure during pregnancy can be life-threatening, so it is important that the woman is constantly observed by her physician in case of complications to her or her baby’s life.
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