If you or someone you know has ADPKD, email us at [email protected]. We’d love to hear from you about your experience!
According to a story from Medscape, a subject of debate in the management of autosomal dominant polycystic kidney disease (ADPKD) revolves around screening for brain aneurysms. While a scan can certainly reveal hidden lesions, a data review suggests that this shouldn’t necessarily change how their disease is managed. These aneurysms are an example of a way in which the disease can have impacts outside of the kidneys themselves.
About ADPKD
Autosomal dominant polycystic kidney disease (ADPKD) is the most widespread monogenic human disorder that can be potentially fatal. However, it is still generally rare. It is characterized by the development of cysts in the kidneys and sometimes other organs as well. ADPKD is caused by mutations affecting the PKD1 gene in 85 percent of cases; in the remainder, the mutation affects the PKD2 gene. The presentation of the disease varies considerably, even within families. Signs of kidney problems often do not appear until middle age, although cysts may begin formation very early in life. Symptoms include anemia, bloody urine, acute loin pain, uremia, liver cysts, berry aneurysm, and high blood pressure. Treatment options are varied; aquaretics can slow disease progression temporarily. Other options include a number of surgical procedures, dialysis, and, when the kidneys begin to fail, kidney transplant. To learn more about ADPKD, click here.
Aneurysms and ADPKD
The review found that a presymptomatic screening of 3010 ADPKD patient records revealed that around nine percent of them had aneurysms. These aneurysms were generally small and were most common in the anterior circulation. Factors such as high blood pressure or a history of smoking appeared to increase the risk. While ruptures of these aneurysms was very rare, patients were still at a five times greater risk when compared to the general population.
One of the review authors, Dr. Vicente Torres, says that a common recommendation is to screen in patients who have a family history of aneurysms, are in a higher risk work environment, or before major surgeries. It is important for patients to be informed of potential risk factors for aneurysms so that the can change their lifestyles accordingly, as a rupture, while still rare, can be potentially fatal.
Check out the original review here.
Do you have ADPKD?
If you or someone you know has ADPKD, email us at [email protected]. We’d love to hear from you about your experience!
