Patricia Griffin Kellicker, BSN
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 one 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:
Your doctor will ask 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.
Tests may include:
Imaging tests 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:
PKD is an inherited disease and is not preventable. If you have a family history of PKD, you may want to talk to your doctor about genetic testing.
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 July 16, 2013.
Autosomal dominant polycystic kidney disease (ADPKD). EBSCO DynaMed website. Available at:
http://www.ebscohost.com/dynamed. Updated February 11, 2013. Accessed July 16, 2013.
Chang MY, Ong AC. Autosomal dominant polycystic kidney disease: recent advances in pathogenesis and treatment.
Polycystic kidney disease (PKD). American Academy of Family Physicians Family Doctor website. Available at:
http://familydoctor.org/familydoctor/en/diseases-conditions/polycystic-kidney-disease.html. Updated January 2011. Accessed October 18, 2012.
Kidney (renal dysplasia) and cystic disease. Urology Care Foundation website. Available at:
http://www.urologyhealth.org/urology/index.cfm?article=19. Updated January 2011. Accessed July 16, 2013.
Last reviewed May 2015 by
Michael Woods, 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.
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