Polycystic Kidney Disease: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Polycystic Kidney Disease?
A nephrologist, a doctor who treats kidney disease, usually leads care for polycystic kidney disease. A geneticist, a doctor who studies inherited conditions, can help families understand how it is passed down. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is polycystic kidney disease?
Polycystic kidney disease (PKD) is a genetic disorder that causes many cysts to grow in the kidneys. Cysts are fluid-filled sacs. They can make the kidneys larger and harder at filtering waste from the blood, and this can lead to kidney failure.
There are two major forms of PKD. The autosomal dominant form, called ADPKD, has signs that typically begin in adulthood. The autosomal recessive form, called ARPKD, is much rarer. Its signs are usually clear at birth or in early infancy. PKD is a fairly common genetic disorder and affects about 500,000 people in the United States.
Symptoms
Most people do not have symptoms until they are 30 to 40 years old. Symptoms may include:
- Abdominal pain or tenderness.
- Blood in the urine.
- Needing to urinate a lot at night.
- Pain in the side or back (flank pain) on one or both sides.
PKD can also cause high blood pressure. Cysts can form in other organs, especially the liver. As many as half of people with PKD have cysts in the liver. Other problems include kidney stones and repeated urinary tract infections.
People with PKD also have a higher risk of an aneurysm, which is an abnormal bulge in a blood vessel. It can form in a large blood vessel called the aorta or in blood vessels at the base of the brain. Aneurysms can be life-threatening if they tear or rupture.
Causes and who gets it
PKD is caused by changes, called mutations, in genes named PKD1, PKD2, and PKHD1.
Most cases are autosomal dominant, which means one changed copy of a gene is enough to cause the disease. In about 90 percent of these cases, the person inherits the change from one affected parent. The other 10 percent result from a new change in people with no history of the disorder in their family.
The autosomal recessive form needs two altered copies of the PKHD1 gene. The parents are carriers and are not affected. A small percentage of cases are not caused by gene changes, and doctors call this acquired PKD. It happens most often in people with other kidney disease who have had hemodialysis, a procedure that filters waste from the blood, for several years.
How doctors diagnose it
A doctor starts with an exam, which may show enlarged kidneys or an enlarged liver. The exam may also show high blood pressure. Doctors may order urine and blood tests, such as a urinalysis, a complete blood count, and liver tests. Imaging tests can find cysts in the liver or other organs, and they include an abdominal ultrasound, CT scan, or MRI scan.
If several members of your family have PKD, genetic tests can show whether you carry the PKD gene. People with a personal or family history of PKD who have headaches should be tested to see whether an aneurysm in the brain is the cause.
Treatment
The goal of treatment is to control symptoms and prevent complications. Treatment may include blood pressure medicines, diuretics (water pills), and a low-salt diet.
For adults whose ADPKD is at risk of getting worse quickly, a medicine called tolvaptan can help slow the decline in kidney function. The FDA approved it in 2018. Ask a kidney doctor whether it is right for you.
Any urinary tract infection should be treated quickly with antibiotics. Cysts that are painful, infected, bleeding, or causing a blockage may need to be drained. Surgery to remove one or both kidneys may be needed.
Treatments for end-stage kidney disease may include dialysis or a kidney transplant. The disease gets worse slowly. Treatment may relieve symptoms for many years.
When to see a doctor
Contact your health care provider if you have symptoms of PKD. Also reach out if you have a family history of PKD and plan to have children, because genetic counseling may help. Tell your provider about headaches if you have a personal or family history of PKD, since an aneurysm in the brain is one possible cause.
Call 911 or go to the emergency room if you have sudden, severe pain anywhere in the body, including a sudden, severe headache, fainting, a sudden change in mental status such as confusion, or trouble breathing.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Such a doctor can check your blood pressure, order first tests, and follow your health over time. They can also help coordinate care with a kidney specialist.
Common questions
Is polycystic kidney disease inherited?
Yes, PKD is passed down through families. In the autosomal dominant form, about 90 percent of people inherit the change from one affected parent.
Can polycystic kidney disease lead to kidney failure?
Yes, it can lead to kidney failure over time. The disease gets worse slowly. People with PKD who do not have other diseases may be good candidates for a kidney transplant.
Does PKD affect other parts of the body?
Yes, cysts can also form in other organs, especially the liver. PKD can also raise the risk of an aneurysm. It can also cause high blood pressure.
Sources
- National Kidney Foundation - Polycystic kidney disease (PKD)
- MedlinePlus - Polycystic kidney disease
- MedlinePlus Genetics - Polycystic kidney disease
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
