Polycystic Kidney Disease

What is polycystic kidney disease?

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Polycystic kidney disease is an inherited kidney disorder that creates fluid-filled cysts in the kidney. These cysts are noncancerous but can grow to dangerous sizes. Polycystic kidney disease is more serious than regular kidney cysts. Kidney damage can occur when these cysts become too large, or too plentiful. This condition can also cause cysts in the liver and other places throughout the body. Polycystic kidney disease can cause kidney failure.

There are two dominant types of polycystic kidney disease:

  • Autosomal dominant polycystic kidney disease (ADPKD) usually presents in adulthood even though cysts develop at birth or in childhood. It typically develops in people aged 30-50. This is the most common type of polycystic kidney disease.
  • Autosomal recessive polycystic kidney disease (ARPKD) usually presents early in life, and it can be lethal. It is also called infantile polycystic kidney disease.
  • Acquired polycystic kidney disease is not an inherited disease. It occurs later in life, specifically to people who have had other kidney issues.

What causes polycystic kidney disease?

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Polycystic kidney disease is a genetic disorder, which means that a mutated gene causes the disorder. However, genes can mutate randomly so there is a chance that the condition can develop spontaneously.

ADPKD and ARPKD have different genetic causes.

  • ADPKD can pass to children from one parent who has polycystic kidney disease. In this case, each child has a 50% chance of developing the disease.
  • ARPKD is much rarer because both parents must have the mutated gene. If both parents carry a polycystic kidney disease gene, each child has a 25% chance of developing the disease.

A small portion of polycystic kidney disease cases are not due to genetic mutation. Patients who develop acquired polycystic kidney disease have had other kinds of kidney disease and used hemodialysis as a treatment.

What are symptoms of polycystic kidney disease?

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Some people have polycystic kidney disease without ever presenting symptoms. Once cysts reach 0.5 inches or larger, people begin to experience symptoms.

Symptoms of polycystic kidney disease include:

  • blood in the urine
  • kidney stones
  • side or back pain
  • kidney or urinary tract infections
  • headaches
  • high blood pressure
  • fatigue
  • frequent urination
  • tenderness or pain in the abdomen
  • feeling of fullness in the abdomen
  • fullness in the abdomen (caused by enlarged kidneys)
  • skin that easily bruises
  • nail abnormalities

Children who have ARPKD might also present symptoms like:

  • frequent urination
  • urinary tract infection
  • high blood pressure

When children develop ARPKD, the symptoms might seem like other conditions. If a child is experiencing symptoms of ARPKD, they should see a medical professional.

Are there any risk factors or groups for polycystic kidney disease?

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Polycystic kidney disease is, for the most part, an inherited disorder. People whose parents have polycystic kidney disease are at risk of developing either ADPKD or ARPKD.

People who have had different types of kidney disease and used dialysis as a form of treatment are at risk of developing acquired polycystic kidney disease.

Are there any complications associated with polycystic kidney disease?

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Polycystic kidney disease can cause several complications, including:

  • Heart valve abnormalities. Approximately 25% of adults who have polycystic kidney disease develop mitral valve prolapse. This means that the heart valve cannot close correctly, and blood leaks backward.
  • Pregnancy complications. Polycystic kidney disease does not guarantee a difficult pregnancy. However, some pregnant people who have polycystic kidney disease can develop preeclampsia, or high blood pressure during pregnancy.
  • Chronic pain. Symptoms of polycystic kidney disease include side or back pain. This pain can be disruptive. Chronic pain is usually a result of a kidney stone, urinary tract infection, or a malignancy.
  • High blood pressure. Symptoms of polycystic kidney disease include high blood pressure. However, high blood pressure can actually cause more damage to the kidneys and increase the risk of strokes and heart disease.
  • Cyst growth in the liver and pancreas. As polycystic kidney disease progresses, cysts can develop in the liver and pancreas. People who have female hormones and multiple pregnancies might see an increase in liver cyst development.
  • Aneurysm. People with polycystic kidney disease are at an increased risk for an aneurysm. If someone with the condition has a family history of aneurysms, their risk is even higher. An aneurysm is when a bulging blood vessel in the brain ruptures and hemorrhages.
  • Colon issues. Polycystic kidney disease can cause sacs, pouches, and weaknesses in the wall of the colon.

Infants with polycystic kidney disease might have liver issues, breathing problems, high blood pressure, and kidney failure.

How is polycystic kidney disease diagnosed?

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ADPKD and ARPKD are inherited disorders, so a doctor will go through a patient’s family history to determine if there is a genetic possibility of developing the disease. Then, a doctor might use a blood count to rule out anemia and a urinalysis to look for bacteria, blood or protein in the urine.

Doctors will also use specific tests to determine the size and amount of kidney cysts. These tests include:

  • Abdominal MRI scan. This exam generates cross-sectional views of the kidney to determine if the patient has cysts.
  • Abdominal ultrasound. This test uses sound waves to search for cysts in the kidneys.
  • Abdominal CT scan. This device projects X-ray beams through the body so that a doctor can view imaging of the kidneys.
  • Intravenous pyelogram. A doctor will use dye to help blood vessels become clearer in an X-ray.

How is polycystic kidney disease treated?

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There are several components to polycystic kidney disease treatment. Treatments for this condition include:

  • blood pressure medication
  • a low-sodium diet
  • pain medication (excluding ibuprofen (Advil) because it can exacerbate kidney disease)
  • antibiotics for urinary tract infections
  • diuretics to help flush excess fluid
  • drainage surgery for cysts

One of the most important parts of polycystic kidney disease is keeping blood pressure under control. Many treatments focus on the crucial management of a patient’s blood pressure.

Severe cases of polycystic kidney disease can cause renal failure. Dialysis or a kidney transplant can treat the advanced stages of this condition.

The Food and Drug Administration approved a drug called tolvaptan in 2018. This drug is a treatment option for ADPKD, and it helps slow down kidney decline. However, a side effect of tolvaptan is severe liver damage. Polycystic kidney disease already affects the liver, so it is imperative that a doctor closely monitors a patient’s reaction to the drug.

What are lifestyle changes that could help with polycystic kidney disease?

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Many people who have polycystic kidney disease join support groups to cope with the diagnosis. If someone does not feel comfortable joining a support group, there are a plethora of online resources available through kidney disease organizations.

A dietician can help people with polycystic kidney disease manage their diet. A balanced diet can lower blood pressure and take some pressure off the kidneys by balancing sodium and electrolyte levels.

People with polycystic kidney disease who want to have children could consider meeting with a genetic counselor. This meeting can help people figure out the likelihood of their child developing polycystic kidney disease.

Should you see a doctor for polycystic kidney disease?

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Anyone who is experiencing symptoms of polycystic kidney disease should see a doctor. Proper treatment for this condition requires a care plan. A doctor can help patients suffering from symptoms of polycystic kidney disease find relief.

What is the outlook for people living with polycystic kidney disease?

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The severity of polycystic kidney disease varies from person to person. Polycystic kidney disease typically gets worse over time. Approximately 50% of people with polycystic kidney disease will have kidney failure by age 60. That percentage rises to 60% by age 70. A proper care plan can manage polycystic kidney disease. The oversight of a knowledgeable care team is imperative to that plan’s success.

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