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Polycystic kidney disease

Cysts - kidneys; Kidney - polycystic; Autosomal dominant polycystic kidney disease; ADPKD

 

Polycystic kidney disease is a kidney disorder passed down through families. In this disease, many cysts form in the kidneys, causing them to become enlarged.

Causes

 

Polycystic kidney disease (PKD) is passed down through families (inherited). The 2 inherited forms of PKD are autosomal dominant and autosomal recessive.

People with PKD have many clusters of cysts in the kidneys. What exactly triggers the cysts to form is unknown. 

PKD is associated with the following conditions:

  • Aortic aneurysms
  • Brain aneurysms
  • Cysts in the liver, pancreas, and testes
  • Diverticula of the colon

As many as half of people with PKD have cysts in the liver.

 

Symptoms

 

Symptoms of PKD may include any of the following:

  • Abdominal pain or tenderness
  • Blood in the urine
  • Excessive urination at night
  • Flank pain on one or both sides
  • Drowsiness
  • Joint pain
  • Nail abnormalities

 

Exams and Tests

 

An examination may show:

  • Abdominal tenderness over the liver
  • Enlarged liver
  • Heart murmurs or other signs of aortic insufficiency or mitral insufficiency
  • High blood pressure
  • Growths in the kidneys or abdomen

Tests that may be done include:

  • Cerebral angiography
  • Complete blood count (CBC) to check for anemia
  • Liver tests (blood)
  • Urinalysis

People with a personal or family history of PKD who have headaches should be tested to determine if cerebral aneurysms are the cause.

PKD and cysts on the liver or other organs may be found using the following tests:

  • Abdominal CT scan
  • Abdominal MRI scan
  • Abdominal ultrasound
  • Intravenous pyelogram (IVP)

If several members of your family have PKD, genetic tests can be done to determine whether you carry the PKD gene.

 

Treatment

 

The goal of treatment is to control symptoms and prevent complications. Treatment may include:

  • Blood pressure medicines
  • Diuretics (water pills)
  • Low-salt diet

Any urinary tract infection should be treated quickly with antibiotics.

Cysts that are painful, infected, bleeding, or causing a blockage may need to be drained. There are usually too many cysts to make it practical to remove each cyst.

Surgery to remove 1 or both kidneys may be needed. Treatments for end-stage kidney disease may include dialysis or a kidney transplant.

 

Support Groups

 

You can often ease the stress of an illness by joining a support group where members share common experiences and problems.

 

Outlook (Prognosis)

 

The disease gets worse slowly. Eventually, it may lead to end-stage kidney failure. It is also associated with liver disease, including infection of liver cysts.

Treatment may relieve symptoms for many years.

People with PKD who don't have other diseases may be good candidates for a kidney transplant.

 

Possible Complications

 

Health problems that may result from PKD include:

  • Anemia
  • Bleeding or rupture of cysts
  • Chronic kidney disease
  • End-stage kidney disease
  • High blood pressure
  • Infection of liver cysts
  • Kidney stones
  • Liver failure (mild to severe)
  • Repeated urinary tract infections

 

When to Contact a Medical Professional

 

Call your health care provider if:

  • You have symptoms of PKD
  • You have a family history of PKD or related disorders and you are planning to have children (you may want to have genetic counseling)

 

Prevention

 

Currently, no treatment can prevent the cysts from forming or enlarging.

 

 

References

Arnaout MA. Cystic kidney diseases. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 24th ed. Philadelphia, PA: Elsevier Saunders; 2012:chap 129.

Porter CC, Avner Ed. Anatomic abnormalities associated with hematuria. In: Kliegman RM, Stanton BF, St. Geme JW III, Schor NF, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 515.

Somlo S, Torres VE, Caplan MJ. Autosomal dominant polycystic kidney disease. In: Alpern RJ, Moe OW, Caplan MJ, eds. Seldin and Giebisch's The Kidney. 5th ed. Philadelphia, PA: Elsevier; 2013:chap 80.

Torres VE, Grantham JJ. Cystic diseases of the kidney. In: Taal MW, Chertow GM, Marsden PA, Skorecki K, Yu ASL, Brenner BM, eds. Brenner and Rector's The Kidney. 9th ed. Philadelphia, PA: Elsevier Saunders; 2012:chap 45.

Torres VE, Grantham JJ. Cystic diseases of the kidney. In: Brenner BM, ed. Brenner and Rector's the Kidney. 8th ed. Philadelphia, PA: Elsevier Saunders; 2007:chap 41.

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          Review Date: 9/22/2015

          Reviewed By: Charles Silberberg, DO, private practice specializing in nephrology, affiliated with New York Medical College, Division of Nephrology, Valhalla, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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