Polycystic Kidney Disease - Causes, Symptoms, Diagnosis and Prevention

A Genetic Disorder : Polycystic Kidney Disease (PKD)

Dr.Jatin Kothari profile Authored by Dr.Jatin Kothari on 17 Feb 2014 - 12:40.

Polycystic Kidney Disease (PKD) is a genetic disorder primarily characterized by development of clusters of non-cancerous round sacs containing water-like fluid (cysts) in the kidneys. PKD results in the enlargement of kidneys with an abnormal shape, ultimately leading to declined function of the kidney and further kidney failure. Progressively, development of cysts may extend to other organs including liver, brain and heart.

PKD exists in two major inherited forms:

  • Autosomal dominant PKD – Itis the most common formseen in people between the ages of 30 and 40 accounting almost 90% of all PKD cases.
  • Autosomal recessive PKD – It is anuncommon form of PKD affectinginfants.

The most prominent and established cause of PKD is the existence of an abnormal gene in the body which runs in the family. It’s not common to detect sudden change in the gene as a cause of PKD. They may be caused by:


  • Autosomal dominant polycystic kidney disease (ADPKD) – If any one parent has the disease, each child has a 50 % probability of getting the disease.
  • Autosomal recessive polycystic kidney disease (ARPKD) - This form of the disease passes to next generation, onlyif both parents carry a gene for this disorder. Each child has a 25 %probability of getting the disease.

Most commonly presented symptoms of PKD are:

  • Headache
  • Pain in the back, hip or ribs
  • Hypertension
  • Enlarged abdomen
  • ​Blood in urine
  • Frequent urination
  •  Kidney failure
  •  Urinary tract infections
  •  Kidney stones


Untreated or poorly managed PKD may lead to further complications such as:

  • Hypertension
  • Increased  risk of heart disease and stroke
  • Declined kidney function
  • Kidney failure
  • Pregnancy complication -  High blood pressure and significant amounts of protein in the urine of a pregnant woman
  • Aneurysm in the brain
  • Weaknesses and pouches in the wall of the colon

Tests and Diagnosis

The diagnosis of PKD is aimed at detecting the size and number of kidney cysts.Some commonly used diagnostic tests are:

  • Ultrasound: to see the images of kidneys and presence of cysts.
  • Computerized tomography (CT) scan : to see cross-sectional images of your kidneys.
  • Magnetic resonance imaging (MRI) scan: To examine kidney structure, function and presence of cysts.

Treatment :

Ideal treatment of PKD involves cumulative treatment to encounter prevailing symptoms and emerging complications. Some of the treatment approaches are:

Treating high blood pressure : A combination of few lifestyle measures including a low-sodium, low-fat diet, no smoking, exercising and reducing stress are recommended to control high blood pressure. Additionally, the doctor may prescribe medications called angiotensin-converting enzyme (ACE) inhibitors to control high blood pressure.

Treating pain : To relieve severe pain the doctor may recommend surgery to remove cysts if they're large enough to cause pressure and pain.

Treating complications of cysts : You may need to undergo surgery to drain the cysts if you are presented with unbearable symptoms. However, it is uncommon. Other methods are:

  • Treating urinary tract infections : Infections are mostly treated with antibiotics.
  • Treating blood in the urine : Consumption of large amount of water is recommended.
  • Treating kidney failure : Your doctor may proceed with dialysis or a kidney transplant.
  • Treating liver cysts : It requires nonsurgical management like avoidance of hormone replacement therapy, drainage of symptomatic cysts, and partial removal of the liver or even liver transplantation.
  • Aneurysms : Surgical clipping of the aneurysm to reduce the risk of bleeding along with treating high blood pressure and high blood cholesterol are recommended.

Preventive measures for PKD include:

  • Getting counseling from an expert, to help you assess your risk of passing the disease to your next generation
  • Managing blood pressure
  • Consuming diet containing low salt, fruits, vegetables and whole grains
  • Maintaining healthy weight
  • Avoiding smoking
  • Exercising regularly



*Disclaimer This is not medical advice. The content is for educational purposes only. Please contact your doctor for any health care issues.