Frequent complications of polycystic kidney disease include dangerously high blood pressure (hypertension), severe pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities. People with this condition also have an increased risk an aortic aneurysm in the brain (an abnormal bulging of the large blood vessel at the base of the brain). Aneurysms can be life-threatening if they tear or rupture.[1]
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Polycystic kidney dysplasia | 90% |
| Anemia | 50% |
| Cystic liver disease | 50% |
| Hematuria | 50% |
| Hypertension | 50% |
| Nephrolithiasis | 50% |
| Proteinuria | 50% |
| Renal insufficiency | 50% |
| Abnormality of prenatal development or birth | 7.5% |
| Abnormality of the pancreas | 7.5% |
| Abnormality of the respiratory system | 7.5% |
| Aneurysm | 7.5% |
| Dilatation of the ascending aorta | 7.5% |
| Hydrocephalus | 7.5% |
| Recurrent fractures | 7.5% |
| Reduced bone mineral density | 7.5% |
| Sarcoma | 7.5% |
| Autosomal dominant inheritance | - |
| Cerebral aneurysm | - |
| Colonic diverticula | - |
| Hepatic cysts | - |
| Heterogeneous | - |
| Increased prevalence of valvular disease | - |
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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My grandfather just recently found out he has polycystic kidney disease, and I am curious to know if I have it also. I am 20 years old and have experienced some symptoms. What is the best way to go about testing for this condition? What kinds of tests do they run? See answer
What complications, if any, could happen if a person with polycystic kidney disease becomes pregnant? What are the risks to the mother and the baby? See answer
Can Polycystic Kidney Diseases be diagnosed in pregnancy? See answer
