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Polycystic Kidney Disease (PKD)

(Autosomal Dominant Polycystic Kidney Disease; ADPKD)

By

Enrica Fung

, MD, MPH, Loma Linda University School of Medicine

Last full review/revision Apr 2021| Content last modified Apr 2021
Click here for the Professional Version
Topic Resources

Polycystic kidney disease is a hereditary disorder in which many fluid-filled sacs (cysts) form in both kidneys. The kidneys grow larger but have less functioning tissue.

There are several genetic defects that cause polycystic kidney disease (PKD). Several types are caused by dominant genes, and one rare type is caused by a recessive gene. That is, a person with the disease has inherited either one copy of a dominant gene from one parent or two copies of a recessive gene, one from each parent. People with dominant gene inheritance usually have no symptoms until adulthood. People with recessive gene inheritance develop severe illness in childhood.

Polycystic Kidney Disease

In polycystic kidney disease, many cysts form in both kidneys. The cysts gradually enlarge, destroying some or most of the normal tissue in the kidneys.

Polycystic Kidney Disease

The genetic defect leads to the widespread formation of cysts in the kidneys. Gradual enlargement of the cysts with increasing age is accompanied by a reduction of blood flow and scarring within the kidneys. Cysts may become infected or bleed. Kidney stones Stones in the Urinary Tract Stones (calculi) are hard masses that form in the urinary tract and may cause pain, bleeding, or an infection or block of the flow of urine. Tiny stones may cause no symptoms, but larger stones... read more Stones in the Urinary Tract may develop. Chronic kidney disease Chronic Kidney Disease Chronic kidney disease is a slowly progressive (months to years) decline in the kidneys’ ability to filter metabolic waste products from the blood. Major causes are diabetes and high blood pressure... read more can occur eventually. The genetic defect may also cause cysts to develop in other parts of the body, such as the liver and pancreas.

Symptoms of PKD

In the rare, recessive form of this disease that begins during childhood, the cysts become very large and cause the abdomen to protrude. A severely affected newborn may die shortly after birth because kidney failure can develop in the fetus, leading to poor development of the lungs. The liver is also affected, and at 5 to 10 years of age, a child with this disorder tends to develop portal hypertension Portal Hypertension Portal hypertension is abnormally high blood pressure in the portal vein (the large vein that brings blood from the intestine to the liver) and its branches. Cirrhosis (scarring that distorts... read more , or high pressure in the blood vessels that connect the intestine and the liver (portal system). Eventually, liver failure Liver Failure Liver failure is severe deterioration in liver function. Liver failure is caused by a disorder or substance that damages the liver. Most people have jaundice (yellow skin and eyes), feel tired... read more and chronic kidney disease Chronic Kidney Disease Chronic kidney disease is a slowly progressive (months to years) decline in the kidneys’ ability to filter metabolic waste products from the blood. Major causes are diabetes and high blood pressure... read more occur.

In the more common, dominant form of polycystic kidney disease, the cysts develop slowly in number and size. Typically, symptoms begin in early or middle adulthood, most often while people are in their 20s. Sometimes symptoms are so mild that people with the disease will live their whole life without ever having known they had the disorder.

Symptoms usually include discomfort or pain in the side Flank Pain Pain caused by kidney disorders usually is felt in the side (flank) or small of the back. Occasionally, the pain extends to the center of the abdomen. Usually pain occurs because the kidney’s... read more (flank) or abdomen, blood in the urine Blood in Urine Blood in the urine (hematuria) can make urine appear pink, red, or brown, depending on the amount of blood, how long it has been in the urine, and how acidic the urine is. An amount of blood... read more , frequent urination Excessive or Frequent Urination Most people urinate about 4 to 6 times a day, mostly in the daytime. Normally, adults pass between 3 cups (700 milliliters) and 3 quarts (3 liters) of urine a day. Excessive urination can refer... read more , and intense crampy (colicky) pain from kidney stones Stones in the Urinary Tract Stones (calculi) are hard masses that form in the urinary tract and may cause pain, bleeding, or an infection or block of the flow of urine. Tiny stones may cause no symptoms, but larger stones... read more Stones in the Urinary Tract . In other cases, fatigue, nausea, and other consequences of chronic kidney disease may result because the person has less functioning kidney tissue. Sometimes cysts may rupture, causing a fever that may last for weeks. Repeated urinary tract infections Overview of Urinary Tract Infections (UTIs) In healthy people, urine in the bladder is sterile—no bacteria or other infectious organisms are present. The tube that carries urine from the bladder out of the body (urethra) contains no bacteria... read more can worsen chronic kidney disease. At least half of people with polycystic kidney disease have high blood pressure High Blood Pressure High blood pressure (hypertension) is persistently high pressure in the arteries. Often no cause for high blood pressure can be identified, but sometimes it occurs as a result of an underlying... read more High Blood Pressure by the time the disorder is recognized.

Complications

Diagnosis of PKD

  • Imaging tests

  • Genetic testing

A doctor suspects this disease on the basis of family history or if an imaging test Imaging Tests of the Urinary Tract There are a variety of tests that can be used in the evaluation of a suspected kidney or urinary tract disorder. (See also Overview of the Urinary Tract.) X-rays are usually not helpful in evaluating... read more done for another reason shows enlarged kidneys and cysts in the kidneys. Ultrasonography and computed tomography (CT) or magnetic resonance imaging (MRI) reveal the characteristic appearance of cysts in the kidneys and liver. Even if the person has a family history of polycystic kidney disease (PKD), doctors may not recommend diagnostic tests until symptoms occur because there are no effective treatments until symptoms occur and being diagnosed may have harmful effects (for example, difficulty obtaining life insurance).

Genetic testing is available to help people with PKD understand the probability that their children will inherit the condition.

Treatment of PKD

  • Treatment of complications and symptoms

Effective treatment of urinary tract infections Treatment Cystitis is infection of the bladder. Usually, bacteria are the cause of cystitis. A frequent need to urinate and pain or burning while urinating are the most common symptoms. Doctors can often... read more Treatment and high blood pressure High Blood Pressure High blood pressure (hypertension) is persistently high pressure in the arteries. Often no cause for high blood pressure can be identified, but sometimes it occurs as a result of an underlying... read more High Blood Pressure slows the rate of kidney destruction. Usually angiotensin-converting enzyme inhibitors Angiotensin-converting enzyme inhibitors High blood pressure is very common. It often does not cause symptoms; however, high blood pressure can increase the risk of stroke, heart attacks, and heart failure. Therefore, it is important... read more and angiotensin receptor blockers Angiotensin II receptor blockers High blood pressure is very common. It often does not cause symptoms; however, high blood pressure can increase the risk of stroke, heart attacks, and heart failure. Therefore, it is important... read more are used to control blood pressure. However, more than half of people who have this disease develop chronic kidney disease with end-stage renal disease (end-stage kidney failure) Overview of Kidney Failure This chapter includes a new section on COVID-19 and acute kidney injury (AKI). Kidney failure is the inability of the kidneys to adequately filter metabolic waste products from the blood. Kidney... read more at some time in their life and require dialysis Dialysis Dialysis is an artificial process for removing waste products and excess fluids from the body, a process that is needed when the kidneys are not functioning properly. There are a number of reasons... read more Dialysis or kidney transplantation Kidney Transplantation Kidney transplantation is the removal of a healthy kidney from a living or recently deceased person and then its transfer into a person with end-stage kidney failure. (See also Overview of Transplantation... read more Kidney Transplantation .

If cysts cause severe pain, doctors may try to drain fluid from the cyst (aspiration). Aspiration may relieve pain but does not affect the person's long-term prognosis. If symptoms are very severe, the kidney may need to be removed.

A newer class of drugs called mammalian target of rapamycin (mTOR) inhibitors may slow the increase in cyst size, but these drugs do not appear to slow the decline in kidney function, so they are not usually used.

Tolvaptan, another new drug, may be beneficial for adults with autosomal dominant polycystic kidney disease that could progress rapidly. Because tolvaptan has been reported to cause severe liver damage, doctors will consult with an expert before prescribing it.

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Polycystic Kidney Disease (PKD)
Polycystic kidney disease (PKD) is an inherited disorder in which multiple fluid-filled sacs, or cysts, form in the kidneys. Occasionally, symptoms of PKD are so mild that a person lives his or her entire life unaware of having the disorder. In addition to cysts, which typically enlarge over time, individuals with PKD often develop other medical issues. Which of the following is NOT a medical issue known to affect people with PKD?
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