It is now possible to determine whether or not an individual has ADPKD before symptoms appear using radiologic techniques such as ultrasound, CT scans or MR imaging or through genetic testing. Your clinical care is not affected by the manner by which you are diagnosed.
A positive diagnosis of PKD allows the physician to monitor you so that complications of the disease, such as high blood pressure, can be treated early to maintain optimal health status. It is also important to be tested if you are considering being a kidney donor and have a family history of PKD.
It is necessary for participation in PKD clinical trials to have an established diagnosis of PKD to enroll. Being able to contribute to the larger good by being part of a clinical study is important for the participants and for future generations of those who may be affected by PKD.
This affects children most severely in utero, at birth and in their early years. Because parents of ARPKD children carry only one mutated gene and show no signs of disease, the birth of a child with ARPKD almost always leads to genetic testing of the child and the parents.
Should you seek a diagnosis?
The question of whether or not to be tested or to have your children tested for PKD before symptoms appear is a difficult and personal one. Once a diagnosis is confirmed by imaging or genetic testing, it becomes part of an individual’s health records. Unfortunately, a diagnosis of PKD may affect an individual’s access to health and life insurance and employment. Learn More about the Genetic Information Non-Discrimination Act (GINA).
It is important to know that ultrasound imaging studies may yield a false negative result, especially in children younger than 20 years old. For a child, a positive diagnosis has implications for when that child reaches adulthood and leaves his parent’s insurance plan. He may have trouble getting health and life insurance as an adult, because insurers may consider his childhood diagnosis of PKD to be a ‘pre-existing condition’ and deny coverage. A positive diagnosis can also have a negative psychological impact on a child and deprives the child of the opportunity to make a choice about being diagnosed. It is generally not recommended that children be tested in the absence of symptoms or high blood pressure. Ultimately, parents must weigh the pros and cons of diagnosing a child in making the decision. This decision may change as more effective therapies for ADPKD are identified. One approach is to monitor blood pressure, urine and other indicators and refer to a specialist if there is a problem.