PKD, or polycystic kidney disease is a disorder which is inherited where clusters of cysts primarily develop inside your kidneys. A kidney cyst is a round, noncancerous sac that contains fluid which is water-like. The cysts vary in size, and as they build up more fluid they will grow quite large.
This is a fairly common disease and affects around five hundred thousand people in the USA alone. The autosomal dominant form of this disease is a lot more common than the autosomal recessive form. 1 in 500 to 1,000 people are affected by autosomal dominant polycystic kidney disease. On the other hand, 1 in 20,000 to 40,000 people are affected by the autosomal recessive type.
What Is Polycystic Kidney Disease?
Polycystic kidney disease affects the kidneys and other organs as well. Cysts develop inside the kidneys, interfering with the kidney’s ability to filter out waste products in the blood. As the kidney cysts grow, the kidneys become enlarged and this can lead to the kidneys failing altogether. Cysts may also grow in other organs, especially the liver.
Commonly seen complications of polycystic kidney disease include pain the sides or back, hypertension or high blood pressure, hematuria or blood in the urine, kidney stones, recurrent urinary tract infections and abnormalities in the heart valve. Plus, people with this disease have a raised risk of an aneurysm, or abnormal bulging, in the aorta, a large blood vessel, or in blood vessels found at the base of the brain. If these aneurysms rupture or tear they can be life-threatening.
What Are the Symptoms of Polycystic Kidney Disease?
Symptoms of polycystic kidney disorder include the following:
- Side or back pain
- High blood pressure
- Abdomen increased in size
- Blood in urine
- Kidney failure
- Kidney stones
- Frequent urination
- Kidney or urinary tract infections
When to See a Doctor
It can be fairly common for someone to have polycystic kidney disease for many years without developing any symptoms or signs and without even knowing they have the disease.
If you have any symptoms or signs of this disease, consult with your doctor so that you can figure out what is causing them. If you have a close relative, such as a sibling, parent or child with the disease, talk to your doctor to discuss the cons and pros of screening for the disorder.
Does Everyone with PKD Develop Kidney Failure?
No, only around fifty percent of people with PKD will have kidney failure by the age of sixty, and around sixty percent will have kidney failure by the age of seventy. Anyone with kidney failure will have to have dialysis or a kidney transplant. Some people will have a higher risk of kidney failure, which includes:
- Anyone with high blood pressure
- People with blood or protein in their urine
- Women who have high blood pressure who have been pregnant more than three times
What Are the Type and Causes of Polycystic Kidney Disease?
Polycystic kidney disease is usually inherited. Less commonly, it can develop in patients who have other kidney problems which are serious.
There are three kinds of PKD.
ADPKD or Autosomal Dominant PKD
ADPKD makes up around ninety percent of PKD cases. If someone has the disorder, they have a chance of giving it to their child fifty percent of the time. APKD is sometimes known as adult PKD. Usually, symptoms show up later in life between thirty and forty years of age. Symptoms can however begin in childhood.
ARPKD or Autosomal Recessive PKD
ARPKD is not seen nearly as often as ADPKD. It is inherited as well; however, both parents have to have the gene for the disease. People who have ARPKD won’t have symptoms unless they have the copies of the gene for the disease.
Four kinds of ARPKD exist:
- Neonatal form (occurs in the first month of life)
- Perinatal from (present at birth)
- Juvenile form (occurs after 1 year of age)
- Infantile form (occurs between 3 and 6 months of age)
ACKD or Acquired Cystic Kidney Disease
This is not inherited and usually forms in patients who’ve already had other problems with their kidneys. It is most common for people who are on dialysis or who have had kidney failure.
ACKD occurs later in life in most cases.
How Is Polycystic Kidney Disease Diagnosed?
Tests can be performed if polycystic kidney disease is suspected:
- MRI or CT scans are scans with more detail that can be done if there is any doubt in regards to the diagnosis.
- A scan in the form of an ultrasound can be done on the kidneys. This is a painless and safe test which makes use of sound waves to make images of structures and organs inside your body. The disease in adults can generally be diagnosed confidently with this test.
- Blood tests can be performed to check the status of the kidney function.
- Urine tests will check for protein and blood in the urine.
In some cases, the disease is diagnosed before any symptoms appear since family members of affected people are sometimes screened, or by chance if a scan of the kidneys is done for a different reason.
What Are the Treatments for Polycystic Kidney Disease?
There is no cure currently for polycystic kidney disease; however, there is much research still going on. A lot of studies suggest that some treatments could slow the rate of the disease, but additional research needs to be done before these treatments can be used. Other studies are helping the genetic basis of PKD to be understood.
Meanwhile, a lot of supportive treatments can be used to help prevent or to slow the loss of the kidney function for people with PKD and to control their symptoms, which include:
- Fast treatment with antibiotics for a kidney or bladder infection
- Keeping blood pressure carefully controlled
- Medication for pain. You can speak with your doctor about the over-the-counter medicines that are safe for you to use when you have kidney disease.
- A lot of fluid when blood in urine is first detected
- A healthier lifestyle such as exercise, stopping smoking, lowered salt intake and weight control