Polycystic Kidney Disease

Overview of Polycystic Kidney Disease

Polycystic kidney disease is a genetic problem of kidneys inherited from parents. In this condition, fluid-filled cysts are formed inside the kidneys.

Polycystic kidney disease is a genetic problem of kidneys inherited from parents. In this condition, fluid-filled cysts are formed inside the kidneys. These cysts can range from microscopic to large-size tubules. This condition causes an increase in kidney size. It occurs due to mutational changes in the gene code for proteins involved in renal tubule formation. These cysts can develop either immediately after birth or during adolescence.
The severity of polycystic kidney disease can be different for every person. Often, in people between ages 55-65, polycystic kidney disease can reach the end stage. However, others may develop mild diseases that never progress to the end stage.

Occurrence of Polycystic Kidney Disease

Polycystic kidney disease is considered a common genetic disorder. Nearly 500,000 people in the United States are affected by this disease. Autosomal dominant is the most commonly occurring type of polycystic kidney disease.  Autosomal dominant polycystic kidney disease affects 0.002% of people, while autosomal recessive types occur in 0.00005% of the population.

Signs and Symptoms of Polycystic Kidney Disease

Some common symptoms of polycystic kidney disease are:

  • High blood pressure
  • Blood in your urine
  • Back or side pain
  • A feeling of fullness in your abdomen
  • Headaches
  • Increased size of your abdomen due to enlarged kidneys
  • Kidney stones
  • Urinary tract or kidney infections
  • Kidney failure
  • Pale skin color
  • Joint pain
  • Nail abnormalities
  • Fatigue

In children symptoms of polycystic kidney disease may include:

Types of Polycystic Kidney Disease

  • Autosomal dominant polycystic kidney disease (ADPKD): This is the most common type of polycystic kidney disease. For its inheritance, only one parent needs to have the disease. Its symptoms often develop after 30 years of age. In the past, it was considered children’s disease but later it was found in adults too.
  • Autosomal recessive polycystic kidney disease (ARPKD): This is the less common type of polycystic kidney disease. Usually, its symptoms appear immediately after birth but in some cases, they appear during adolescence

Causes of Polycystic Kidney Disease

Polycystic kidney disease is a genetic disorder caused by mutated genes. In some cases, the mutation is spontaneous therefore its copy is not present in either parent. 

ADPKD can be passed only from one parent. On the contrary, ARPKD can be transferred from both parents.


Risk Factors of Polycystic Kidney Disease

Polycystic kidney disease can lead to the following complications:

  • High Blood Pressure (BP): Polycystic kidney disease often causes high blood pressure. If high BP is not treated properly it can cause further damage to the kidneys. Other complications such as heart problems and strokes can also occur.
  • Loss of Kidney Function: With polycystic kidney disease, kidney function can be progressively impaired. About half of the people with PKD above age 60 experience this serious complication. PKD causes uremia, a condition in which toxic waste is accumulated in the body. In some server cases, end-stage renal failure may occur.
  • Growth of Cysts in the Liver: development of liver cysts is the most common complication of PKD in adults. These cysts can develop in both males and females but mostly affect females. In females, multiple pregnancies and hormones are the major contributors to cyst formation. 
  • Heart Valve Abnormalities: Mitral valve prolapse is a heart problem associated with PKD. Every 1 person in 4 with PKD may develop this heart problem. In this condition, heart valves are no longer able to close properly. 
  • Colon Problems: A person with PKD has the chance to develop diverticulosis-a a colon problem in which its walls are weakened or sacs are formed on it.  
  • Development of an Aneurysm in the Brain: Aneurysm is a condition in which a blood vessel in the brain bulges. Upon its rupturing bleeding can occur in the brain. People with PKD have higher chances of aneurysms. If you have a family history of aneurysms, your risks of aneurysms are greatly increased.
  • Pregnancy Complications: Often pregnancy is normal for women with polycystic kidney disease. But in some cases, women may develop preeclampsia, a life-threatening complication of pregnancy associated with liver or kidney damage. 



Although polycystic kidney disease is a genetic disorder, its complications can be prevented by managing high blood pressure. It can be done by following tips:

  • Take blood pressure and maintain medicines as per the doctor’s recommendation
  • Consume a low-salt diet and add plenty of fruits, vegetables, and whole grains to your diet
  • Maintain healthy body weight
  • Limit alcohol use
  • Abstain from smoking
  • Exercise regularly


Polycystic kidney disease can be diagnosed by performing various tests to detect the size and number of kidney cysts. These tests may include:

  • Imaging Tests: Imaging tests such as X-rayCT scan or MRI allows the doctor to see the detailed image of the kidney and locate the position of cysts.
  • Ultrasonography: An imaging test that is performed to check the detailed image and location of the cyst. A wand-like device (transducer) is placed over the affected area of your body. Sound waves from the device travel through the tissues and when reflected back transforms into an image on the computer screen. Sometimes ultrasound is performed several times to check whether a cyst is growing or a new one is formed.
  • Venography or Ascending Phlebography: In venography, an X-ray of the vein is taken to obtain a detailed image. A dye is injected through a catheter into the blood vessels.

Treatment of Polycystic Kidney Disease | When to Consult a Doctor

Polycystic kidney disease can be treated by dealing with its symptoms in its early stage to avoid complications.

  1. Kidney Cyst Growth

In order to slow the progression of kidney cysts, Tolvaptan therapy is usually recommended. Tolvaptan (Jynarque) is a pill that is orally administered to slow the growth of cysts. However, this drug has serious side effects including liver injury and interaction with other medications. Therefore, a consultation with a kidney specialist is the best option to prevent serious complications. 

  1. High Blood Pressure

Control of high blood pressure is the best way to slow the progression of the disease and further kidney damage. High blood pressure can be controlled by: 

  • Taking a low-sodium and low-fat diet 
  • A diet with balanced calorie content and protein
  • Exercise 
  • Reducing stress 

Medicines including angiotensin-converting enzyme (ACE) inhibitors or angiotensin II receptor blockers (ARBs) are often recommended to control high BP.

  1. Impaired Kidney Function

Healthy kidney function can be maintained by normal body weight. Kidney cysts can be avoided by drinking plenty of water and other fluids. Low-salt and protein diets can also help to maintain a healthy kidney function. 

  1. Pain 

Over-the-counter medicines can be used to relieve the pain of polycystic kidney disease. Often acetaminophen is recommended for this purpose. However, if the pain is more severe, cyst fluids are drawn out by using a needle. Kidney cysts can also be shrunk by injecting sclerosing agent-a medication. Another treatment option is the surgical removal of cysts if they are large enough and cause pain or pressure.

  1. Bladder or Kidney Infections 

Kidney damage can be prevented by the treatment of infections of UTI. For complicated bladder or kidney infections, a longer course of antibiotics is recommended.  

  1. Blood in the Urine 

If obstructive clots are formed in the vessels of the urinary tract, blood starts to appear in the urine. It can be avoided by diluting the urine by drinking plenty of water and other fluids. Often, bleeding stops on its own, however, if it worsens consult a specialist.

  1. Kidney Failure  

If kidneys are no longer able to remove toxic wastes and extra fluid they need either dialysis or a kidney transplant. 

  1. Aneurysms 

Aneurysms can be treated both surgically and non-surgically. After diagnosis, surgical clipping of the aneurysm is done to prevent bleeding. A nonsurgical aneurysm can be treated by controlling blood pressure and cholesterol level.  


If you experience any signs and symptoms of polycystic kidney disease that are persistent and worrisome seek medical care and consult a nephrologist as soon as possible.