What is Polycystic Kidney Disease?

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  • Written By: Mary McMahon
  • Edited By: O. Wallace
  • Last Modified Date: 29 September 2019
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Polycystic kidney disease is an inherited disorder which causes cysts to develop in the kidneys. Over time, the cysts lead to a decline in kidney function which can eventually end in kidney failure. When this condition is diagnosed in a timely fashion, a variety of techniques can be used to manage it and to prevent total failure of the kidneys while keeping the patient comfortable. Someone with this condition will usually need to work with a nephrologist, a doctor who specializes in kidney disorders, or a urologist, a doctor who handles the urinary tract.

PKD, as it is sometimes known, comes in two forms. Autosomal dominant polycystic kidney disease is the most common, occurring when someone inherits a gene for the disorder from a parent, or when a spontaneous mutation develops. In the recessive form, the patient needs to inherit two copies of the gene in order to develop the condition. This form is much less common, in part because it is statistically less likely because patients require two genes for it to appear.

The cysts in the kidneys grow slowly, and as they grow, the patient develops a variety of medical problems. High blood pressure is a very common issue, as are urinary tract infections, kidney stones, bloody urine, and tenderness in the abdomen and lower back. The kidneys typically become swollen because of the cysts, but they are less able to work effectively, because the cysts impede kidney function.


Management of polycystic kidney disease is usually focused on treating the complications, such as urinary tract infections, as they arise. Patients may also be given dietary recommendations which are designed to improve kidney function and keep blood pressure from rising to a dangerous level. They must also undergo routine screenings to check for more uncommon, but potentially serious, complications such as problems with the cardiovascular system, brain, and intestinal tract.

In some cases, polycystic kidney disease is diagnosed shortly after birth, especially in families with a history of this condition. In other instances, the onset of the disease may be later, and a patient may be diagnosed when he or she goes to a doctor for treatment of kidney problems. Medical imaging studies such as ultrasound and CT scans can be used to reveal the presence of cysts, and it is also possible to use genetic testing to determine whether or not a patient has the rogue gene which causes polycystic kidney disease.


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