Autosomal dominant polycystic kidney disease (also called ADPKD or adult polycystic kidney disease) causes multiple cysts to form in your kidneys. These cysts lead to kidney damage, and can eventually cause kidney failure. Every year, approximately 6,000 Americans find out they have ADPKD.

From the community: “I was diagnosed with polycystic kidney disease last year. I am 60 yo and a female. Just recently my bood pressures have been way out of control with diastolic pressures in the 100-120 range. All my kidney function test are within range yet my doc keeps adding more and more meds which make me feel worse and my BP's are still out of control. Help!!! Any and all advice would be appreciated. My quality of life is down the tubes at this point and I just want some peace of mind back...” – Inspire member

About ADPKD (autosomal dominant polycystic kidney disease)

A gene change (mutation) causes ADPKD. Most people who have this gene change inherit it, so you may already know that you’re at risk for ADPKD and kidney cysts. ADPKD is a dominant disease, which means you’re certain to get kidney cysts at some point if you have the mutated gene. You may get ongoing imaging tests to check for the development of kidney cysts. 

Signs of ADPKD tend to occur during adulthood, after you enter your 30s. But some people have kidney cysts and symptoms during childhood, adolescence, or early adulthood. For 1 in 10 people with ADPKD, the onset of the disease and its symptoms comes as a surprise. They have no family history of ADPKD, and the gene change happens for no apparent reason. 

It’s not uncommon for people who don’t have symptoms (asymptomatic) to find out they have the disease after getting imaging tests to check for conditions like kidney stones or urinary tract infections (UTIs). This can happen as late as your 80s or 90s. In these instances, doctors aren’t specifically looking for kidney cysts or signs of ADPKD. The ADPKD finding happens by chance. 

From the community: “I have PKD. It was 30 years from my diagnosis to dialysis. I never had any symptoms from the disease. Maybe some people do though. Are your kidneys enlarged? Enlargement is a big problem for some. My kidneys have lots and lots of cysts. Not just a few. Maybe I had a few in the beginning though. Your nephrology department can diagnose the problem. Take care, and, try not to worry.” – Inspire member

Imaging tests for ADPKD

ADPKD is a progressive disease, which means symptoms and kidney damage will continue to worsen as you get older. An early diagnosis is critical to starting ADPKD treatments that can slow the effects of the disease on your kidneys. 

Doctors rely on different imaging tests to look for kidney cysts and diagnose ADPKD. These tests include:

• ultrasound

• CT scan

• MRI

Ultrasound

Ultrasounds are the most common test that doctors use to diagnose kidney cysts and other kidney problems. The test uses sound waves to create images of organs like your kidneys. These images can identify kidney cysts. Your doctor can use the test to estimate the number of cysts and their sizes.

CT scan

CT scans use advanced computer technology and X-rays to create images of your urinary tract, including your kidneys. You may get an injection of a contrast dye that makes it easier for your doctor to see your kidneys and kidney cysts. Images from CT scans are more detailed than ultrasound images. These scans help your doctor more clearly see the size and number of cysts.

MRI

Doctors often use MRIs to monitor disease progression. The detailed images enable your doctor to measure the size of your kidneys and kidney cysts more accurately. After diagnosis, you may get ongoing MRIs to check for signs that your kidneys or kidney cysts are growing bigger. An MRI uses powerful magnets and radio waves to create images of your organs and surrounding tissue. You may also get a contrast dye injection to make it easier for your doctor to view your kidneys and tissues.

What are the risks of imaging scans for ADPKD?

Ultrasounds are a safe tool for identifying kidney cysts because they don’t use radiation or contrast dyes. However, ultrasound images aren’t as clear or detailed as those produced by CT scans and MRIs. Nonetheless, your doctor may try to limit the number of CT scans and MRIs you get. CT scans use radiation (X-rays). Repeated radiation exposure over time can increase your risk of cancer.

The IV contrast dyes for CT scans and MRIs can be hard on your kidneys. This isn’t a good thing when you’re already experiencing kidney damage from cysts. Still, you may periodically need these tests to assess disease progression. CT scans and MRIs can also help your doctor identify other issues like kidney stones and bleeding inside a cyst or kidney.

Genetic testing for ADPKD

If imaging tests identify multiple kidney cysts, your doctor may order genetic testing (also called DNA testing) to see if you have a mutated gene known to cause ADPKD. These tests require a blood draw at your doctor’s office or lab.

There are two types of genetic tests for ADPKD. You may get one test or both:

• Gene linkage testing: This blood test compares your blood samples to three or more family members who have ADPKD. It’s 99% accurate at determining whether you have inherited the same disease-causing genetic mutation.

• Direct DNA sequencing: This test analyzes a sample of your blood for changes to the PKD1 and PKD2 genes that cause ADPKD.

Sources

• Polycystic kidney disease. Cleveland Clinic. February 2021.

• Autosomal dominant polycystic kidney disease (ADPKD). Kidney Fund.

• Autosomal dominant polycystic kidney disease. National Institute of Diabetes and Digestive and Kidney Diseases. January 2017.

• Autosomal dominant polycystic kidney disease. National Organization for Rare Disorders. 

• How is ADPKD diagnosed? PKD Foundation. June 2021.

• What are the stages of ADPKD? PKD Foundation. June 2021.

Disclaimer

Member comments are lightly edited for length and to remove identifying information but are otherwise reproduced as they appear in the community as part of public posts.

This content is for general informational purposes only and does not necessarily reflect the views and opinions of any organization or individual. The content should not be used as a substitute for professional medical advice, diagnosis, or treatment. Please consult your healthcare provider about any questions you may have regarding a medical condition.