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What is autosomal dominant polycystic kidney disease (ADPKD)?
Autosomal dominant polycystic kidney disease (ADPKD)
is a genetic disorder characterized by the growth of numerous cysts in the kidneys. It is the most common inherited disorder of the kidneys. Symptoms usually develop between the ages of 30 and 40, but they can begin earlier, even in childhood. The most common symptoms are pain in the back and the sides and headaches. Other symptoms include liver and pancreatic cysts, urinary tract infections
, abnormal heart valves, high blood pressure
, kidney stones
, brain aneurysms
, and diverticulosis
. About 90 percent of all cases of polycystic kidney disease (PKD) are inherited in an autosomal dominant
fashion. Although there is no cure for ADPKD, treatment can ease symptoms and prolong life.
Last updated: 6/22/2011
What are the symptoms of autosomal dominant polycystic kidney diesase (ADPKD)?
The most common symptoms of ADPKD are pain in the back and the sides—between the ribs and hips—and headaches. The pain can be temporary or persistent, mild or severe. People with ADPKD may also experience the following complications:
Last updated: 1/19/2010
How is autosomal dominant polycystic kidney disease (ADPKD) diagnosed?
ADPKD is usually diagnosed by kidney imaging studies. The most common form of diagnostic kidney imaging is ultrasound
, but more precise studies, such as computerized tomography (CT) scans
or magnetic resonance imaging (MRI)
are also widely used. Kidney imaging results can also vary considerably, depending on a patient’s age. Younger patients usually have both fewer and smaller cysts. Doctors have developed specific criteria for diagnosing ADPKD with kidney imaging based on age. For example, the presence of at least two cysts in each kidney by age 30 in a person with a family history of the disease can confirm the diagnosis of ADPKD. 
In an individual with a positive family history of ADPKD, the enlargement of the kidneys or liver on physical examination is highly suggestive of the diagnosis. The presence of hypertension, mitral valve prolapse, or abdominal wall hernia is also suggestive of the diagnosis. Definite diagnosis, however, relies on the imaging described above or on a specific genetic test.
The genetic testing for ADPKD detects changes (mutations) in two genes
, called PKD1
Genetic testing is typically performed first in people who have a diagnosis or symptoms of ADPKD. If a mutation is found, unaffected family members can be tested to determine if they will eventually develop the condition.
To see information about laboratories that perform genetic testing for ADPKD type 1, click here
. For information about laboratories that perform genetic testing for ADPKD type 2, click here
. Most of the laboratories listed do not accept direct contact from patients and their families; therefore, those who are interested in learning more may need to work with a health care provider or a genetics professional.
Last updated: 6/13/2011
What is the treatment for autosomal dominant polycystic kidney disease (ADPKD)?
Although a cure for ADPKD is not available, treatment can ease symptoms and prolong life.
Treatment is aimed at treating both kidney and non-kidney symptoms. Pain in the area of the kidneys is treated as needed with pain medications, and for chronic pain, with antidepressants. When standard methods of treating kidney pain do not work, fluid may be removed from the kidney cysts. When kidney function starts to decline, treatment is aimed at slowing down the progression to kidney failure. This involves controlling high blood pressure, restricting protein in the diet, controlling build up of acid (acidosis) and preventing elevated levels of phosphate (hyperphosphatemia). When individuals with ADPKD develop renal failure, they need to have dialysis or a kidney transplant.
Last updated: 1/19/2010
How is autosomal dominant polycystic kidney disease (ADPKD) inherited?
ADPKD is inherited as an autosomal dominant trait in families. This means that if one parent has the disease, there is a 50-percent chance that the disease will pass to a child of either gender. In this form, one out of a person's two copies of the PKD1 or PKD2 gene must be altered in order for the person to develop ADPKD. In about 90 percent of these cases, an affected person inherits the mutation from one affected parent. The other 10 percent of cases result from new mutations in one of the genes and occur in people with no history of the disorder in their family.
Although one altered copy of a gene in each cell is sufficient to cause the disorder, an additional mutation in the second copy of the PKD1 or PKD2 gene may make cysts grow faster and increase the severity of the disease. The rate at which cysts enlarge and cause a loss of kidney function varies widely, and may be influenced by mutations in other, as yet unidentified, genes.
Last updated: 10/5/2015
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