What is polycystic kidney disease?
Polycystic kidney disease (PKD) is an inherited kidney disorder. It causes fluid-filled
cysts to form in the kidneys. PKD may impair kidney function and eventually cause
PKD is the fourth leading cause of
kidney failure. People with PKD may also develop cysts in the liver and other
What are the symptoms of polycystic kidney disease?
Many people live with PKD
for years without experiencing symptoms associated with the disease. Cysts
typically grow 0.5 inches or larger before a person starts noticing symptoms.
Initial symptoms associated with PKD can include:
- pain or tenderness in the abdomen
- blood in the urine
- frequent urination
- pain in the sides
- urinary tract infection (UTI)
- kidney stones
- pain or heaviness in the back
- skin that bruises easily
- pale skin color
- joint pain
- nail abnormalities
Children with autosomal
recessive PKD may have symptoms that include:
- high blood pressure
- frequent urination
Symptoms in children may
resemble other disorders. It is important to get medical attention for a child
experiencing any of symptoms listed above.
What causes polycystic kidney disease?
PKD is generally inherited. Less commonly, it
develops in people who have other serious kidney problems. There are three
types of PKD.
Autosomal dominant (ADPKD) is sometimes
called adult PKD, and accounts for about 90 percent of cases. Someone who has a parent with PKD has a 50 percent chance of developing this condition.
Symptoms usually develop later in life,
between the ages of 30 and 40. However, some people begin to experience symptoms
Autosomal recessive PKD (ARPKD) is much less
common than ADPKD. It is also inherited, but both parents must carry the gene
for the disease.
People who are carriers of ARPKD will not
have symptoms if they have only one gene. If they inherit two genes, one from
each parent, they will have ARPKD.
There are four types of ARPKD:
- perinatal form is present at birth
- neonatal form occurs within the first month of life
- infantile form occurs when the child is 3 to 12 months old
- juvenile form occurs after the child is 1 year old
Acquired cystic kidney disease
Acquired cystic kidney disease (ACKD) is not
inherited and it usually occurs later in life.
It usually develops in people who already
have other kidney problems. And it is more common in those who have kidney
failure or are on dialysis.
How is polycystic kidney disease diagnosed?
Because ADPKD and ARPKD are inherited, your doctor will review your family
history. They may initially order a complete blood count to look for anemia or
signs of infection and a urinalysis to look for blood, bacteria, or protein in
To diagnose all three
types of PKD, your doctor may use imaging tests to look for cysts of the
kidney, liver, and other organs. Imaging tests used to diagnose PKD include:
- abdominal ultrasound: a non-invasive test that uses sound
waves to look at your kidneys for cysts
- abdominal CT scan: can detect smaller cysts in the kidneys
- abdominal MRI scan: uses strong magnets to image your body
to visualize kidney structure and look for cysts
- intravenous pyelogram: uses a dye to make your blood vessels
show up more clearly on an X-ray
What are the complications of polycystic kidney disease?
In addition to
the symptoms generally experienced with PKD, as cysts on the kidneys grow
larger there may be complications.
Some of these
complications can include:
- weakened areas
in the walls of arteries, known as aortic or brain aneurysms
- cysts on and in
- cysts in the
pancreas and testicles
- pouches or
pockets in the wall of the colon, or diverticula
- cataracts or
- liver disease
mitral valve prolapse
- anemia, or
insufficient red blood cells
- bleeding or
bursting of cysts
- high blood
- liver failure
- kidney stones
What is the treatment for polycystic kidney disease?
The goal of PKD treatment
is to manage symptoms and avoid complications. Controlling high blood
pressure is the most important part of treatment.
Some of the treatment options may
- pain medication, except Ibuprofen, which is not recommended
as it may worsen kidney disease
- blood pressure medication
- antibiotics to treat UTIs
- a low sodium diet
- diuretics to help remove excess fluid from the body
- surgery to drain cysts and help relieve discomfort
With advanced PKD that
causes renal failure, dialysis and kidney transplant may be necessary. One or both of
the kidneys may need to be removed.
Coping and support for polycystic kidney disease
A diagnosis of PKD may
mean changes and considerations for you and your family. You may experience a
range of emotions when you receive a PKD diagnosis and as you adjust to living
with the condition. Reaching out to a support network of family and friends can
You may also wish to reach
out to a dietitian, who can recommend dietary steps to help you keep blood
pressure low and reduce the work required of the kidneys, which must filter and
balance electrolytes and sodium levels.
There are several
organizations that provide support and information for those living with PKD:
You can also talk to your
nephrologist or local dialysis clinic to find support groups in your area. You
don’t have to be on dialysis in order to access these resources.
If you aren’t ready or
don’t have the time to attend a support group, each of these organizations have
online resources and forums available.
Because polycystic kidney disease can be an
inherited condition, your doctor may recommend seeing a genetic counselor. They
can help you figure out a map of your family’s medical history with respect to
Genetic counseling may be an option that can
help you weigh important decisions, such as the likelihood your child could
Kidney failure and transplant options
One of the most serious complications of
polycystic kidney disease is kidney failure. This is when the kidneys are no
longer able to filter waste products, maintain fluid balance, and maintain
blood pressure on their own. When this occurs, your doctor will discuss options
with you that may include a kidney transplant or dialysis treatments to act as
If your doctor does place you on a kidney
transplant list, there are several factors that determine your placement. These
include your overall health, expected survival, and time you have been on
dialysis. It’s also possible that a friend or relative could donate a kidney to
you. Because people can live with only one kidney with relatively few
complications, this can be an option for families who have a willing donor.
The decision to undergo a kidney transplant
or donate a kidney to a person with kidney disease can be a difficult one.
Speaking to your nephrologist can help you weigh your options. You can also ask
what medications and treatments can help you live as well as possible in the
meantime. According to the University of Iowa, the
average kidney transplant will allow kidney function from 10 to 12 years.
What is the outlook for people with polycystic kidney disease?
For most people, PKD
slowly gets worse over time. It is estimated that 50 percent of people with PKD
will experience kidney failure by age 60. This number increases to 60 percent
by age 70. Because the kidneys are such important organs, their failure may
start to affect other organs, such as the liver.
Proper medical care can help
you manage PKD symptoms for years. If you don’t have other medical problems,
you may be a good candidate for a kidney transplant.
Also, you may consider
speaking with a genetic counselor if you have a family history of PKD and are
planning to have children.