Autosomal dominant polycystic kidney disease

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 both genetic and environmental factors.^[1]

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. The signs and symptoms in a child of a parent who has ADPKD may be less or more severe.^[1]

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.^[3][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]

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.

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.