Polycystic kidney disease (PKD) is an inherited disease that causes many cysts to form in the kidneys.
Cysts, which are sacs filled with fluid, grow in both kidneys causing them to become enlarged. The number of cysts can range from a few to a great number. The size of the cysts can vary from too small to detect, to cysts that are larger than the kidney itself.
PKD is caused by an inherited gene. Children have a 50% chance of developing PKD if 1 parent carries the gene. If a person has the PKD gene, he or she will have some form of the disease in his or her lifetime.
There is also a rare form of PKD, called autosomal recessive polycystic kidney disease, that affects newborns, infants, and children. This form of PKD can cause death in the first month of life.
The primary risk factor for PKD is having a parent with the disease. In about 10% of cases, the gene for the disease was not inherited, but mutated. PKD affects men and women equally.
During the early stages of PKD, there are often no symptoms. Some people are never diagnosed because their symptoms are mild. Most symptoms appear in middle age.
Frequently, the first symptom is pain in the back or side. Other signs of PKD include:
You will be asked about your symptoms and medical history. A physical exam will be done. When diagnosing PKD, your doctor may begin by looking for signs of the disease.
Your bodily fluids may be tested. This can be done with:
Imaging tests may be done to evaluate the kidneys. This can be done with:
Ten to forty percent of patients with PKD also have an aneurysm in the brain. An aneurysm is a weakness in the wall of a blood vessel. If you are diagnosed with PKD and have a family history of a brain aneurysm, your doctor may advise an arteriogram to detect the presence of an aneurysm.
Most treatments for PKD treat the disease symptoms or prevent complications. Some of these treatment options may include:
National Institute of Diabetes and Digestive and Kidney Diseases
The Kidney Foundation of Canada
ADPKD vs. ARPDK: What's the difference? PKD Foundation website. Available at: http://www.pkdcure.org/learn. Accessed June 1, 2016.
Autosomal dominant polycystic kidney disease (ADPKD). EBSCO DynaMed Plus website. Available at: http://www.dynamed.com/topics/dmp~AN~T116105/Autosomal-dominant-polycystic-kidney-disease-ADPKD. Updated June 10, 2016. Accessed September 29, 2016.
Chang MY, Ong AC. Autosomal dominant polycystic kidney disease: recent advances in pathogenesis and treatment. Nephron Physiol. 2008;108(1):1-7.
Polycystic kidney disease (PKD). Family Doctor—American Academy of Family Physicians website. Available at: http://familydoctor.org/familydoctor/en/diseases-conditions/polycystic-kidney-disease.html. Updated April 2014. Accessed June 1, 2016.
Kidney (renal dysplasia) and cystic disease. Urology Care Foundation website. Available at: http://www.urologyhealth.org/urology/index.cfm?article=19. Accessed June 1, 2016.
Last reviewed June 2016 by Adrienne Carmack, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.