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%|
|Cystic liver disease||50%|
|Abnormality of prenatal development or birth||7.5%|
|Abnormality of the pancreas||7.5%|
|Abnormality of the respiratory system||7.5%|
|Dilatation of the ascending aorta||7.5%|
|Reduced bone mineral density||7.5%|
ADPKD is inherited as an autosomal dominant trait in families. This means that if one parent has the disease, there is a 50-percent chance that the disease will pass to a child of either gender. In this form, one out of a person's two copies of the PKD1 or PKD2 gene must be altered in order for the person to develop ADPKD. In about 90 percent of these cases, an affected person inherits the mutation from one affected parent. The other 10 percent of cases result from new mutations in one of the genes and occur in people with no history of the disorder in their family.
Although one altered copy of a gene in each cell is sufficient to cause the disorder, an additional mutation in the second copy of the PKD1 or PKD2 gene may make cysts grow faster and increase the severity of the disease. The rate at which cysts enlarge and cause a loss of kidney function varies widely, and may be influenced by mutations in other, as yet unidentified, genes.
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.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
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
I inherited polycystic kidney disease from my mother. Over the past two years I have had two CT scans which show that the condition has not changed. One side of my kidney is very large and I am currently taking medicine for high blood pressure. I am worried because I have three children. What can I do to manage my condition? See answer
In autosomal dominant polycystic kidney disease (ADPKD), does the symptom and severity of symptoms of tend to be the same among affected family members (e.g., would a mother and her son with ADPKD be similarly affected)? See answer
My brother was been recently diagnosed with autosomal dominant polycystic kidney disease (ADPKD). I am interested in testing to determine if I will go on to develop symptoms in the future. What are symptoms of ADPKD? How is it diagnosed? What influences the age at which symptoms begin to appear? See answer