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Genetic and Rare Diseases Information Center (GARD)

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Autosomal dominant polycystic kidney disease


* Not a rare disease
Other Names for this Disease
  • Polycystic kidney disease, adult type
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Your Question

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)?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Do members of the same family who have autosomal dominant polycystic kidney disease (ADPKD) experience the same signs and symptoms and severity?

Although all individuals with ADPKD typically develop cysts within the kidneys, significant variability exist in the severity of kidney disease and other signs and symptoms of the disease, even within the same family. The variability observed within the same family may be due to genetic and environmental factors.[1]
Last updated: 7/28/2009

If a person inherits autosomal dominant polycystic kidney disease (ADPKD) from a parent who is not severely affected, does this mean that the person’s signs and symptoms will also be less severe?

No, the severity of the signs and symptoms in a person do not appear to correlate with the severity of the disease of the person from which the ADPKD was inherited.[1] The signs and symptoms in a child of a parent who has ADPKD may be less or more severe.[2]
Last updated: 7/28/2009

What might impact the severity of the signs and symptoms of autosomal dominant polycystic kidney disease (ADPKD)?

Both genetic and environmental factors appear to play a role in affecting the severity of the signs and symptoms seen in people who have ADPKD.

Mutations in two genes, PKD1 and PKD2, have been associated with ADPKD. A clear association exists between the severity of kidney disease and the specific gene involved. For instance, mutations in the PKD1 gene are associated with more severe disease with an earlier age at diagnosis, higher incidence of high blood pressure (hypertension) and blood in the urine (hematuria), and earlier onset of end-stage kidney disease (ESKD), with ESKD occurring on average 20 years earlier in PKD1 than in PKD2.[1][2]  Some have also suggested that the specific mutation present in the PKD1 gene may correlate with disease severity.[1]  The presence of certain mutations in other genes such as the ACE or ENOS may increase a person's risk for disease progression; however, this association is controversial.[1][2]

The sex of the person may also impact the severity of ADPKD, namely in PKD2. It appears that males tend to progress to end-stage kidney disease much more quickly than females; however, no sex difference has been observed in PKD1.[1][2]

Environmental influences that might impact disease severity may include, but are not limited to, hormones, caffeine, and smoking.[2]
Last updated: 7/28/2009

Who might be able to provide specific information pertaining to my fiancé's autosomal dominant polycystic kidney disease?

In addition to speaking with his health care provider, your fiancé may want to schedule a genetics consultation with a genetics professional. Such a professional can be a source of information for individuals and families regarding genetic diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members. To find a genetics clinic, we recommend that your fiancé contact his primary doctor for a referral.

The following online resources can also help you find a genetics professional in your community:

* GeneTests - A searchable directory of US and international genetics and prenatal diagnosis clinics. Go to the following link and click on 'Clinic Directory' to find a genetic service close to you.

* ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.

* Genetic Centers, Clinics, and Departments - A comprehensive resource list for genetic counseling, including links to genetic centers and clinics, associations, and university genetics departments. Hosted by the University of Kansas Medical Center.
Last updated: 7/28/2009