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| DiseaseID |
HGD24 |
| Genetic
Disorder |
Polycystic kidney disease
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| Gene
Name |
PKD1 and PKD2 gene |
| Description |
Polycystic kidney disease (PKD) is a disorder in which clusters of cysts develop primarily within your kidneys. Cysts are noncancerous round sacs containing water-like fluid.
Polycystic kidney disease isn't limited to only your kidneys, although the kidneys usually are the most severely affected organs. The disease can cause cysts to develop elsewhere in your body.
The greatest risk for people with polycystic kidney disease is developing high blood pressure. Kidney failure also is common with polycystic kidney disease.
Polycystic kidney disease varies greatly in its severity, and some complications are preventable. Regular checkups can lead to treatments to reduce damage to your kidneys from complications, such as high blood pressure.
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| Symptoms |
Polycystic kidney disease symptoms may include:
? High blood pressure
? Back or side pain related to enlarged kidneys
? Abdominal pain
? Increase in the size of your abdomen
? Blood in your urine
? Frequent urination
? Kidney stones
? Kidney failure
? Kidney infections
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| Causes |
Polycystic kidney disease (PKD) is passed down through families (inherited), usually as an autosomal dominant trait. If one parent carries the gene, the children have a 50% chance of developing the disorder.
Autosomal dominant PKD occurs in both children and adults, but it is much more common in adults, with symptoms often not showing up until middle age. It affects nearly 1 in 1,000 Americans. The actual number may be more, as some people do not have symptoms. The disorder may not be discovered unless tests revealing the disease are performed for other reasons.
An autosomal recessive form of polycystic kidney disease also exists and appears in infancy or childhood. This type tends to be very serious and progresses rapidly, resulting in end-stage kidney failure and generally causing death in infancy or childhood.
Persons with PKD have multiple clusters of cysts form on the kidneys. The exact action that triggers cyst formation is unknown. In early stages of the disease, the cysts cause the kidney to swell, disrupting kidney function and leading to chronic high blood pressure and kidney infections. The cysts may cause the kidneys to increase production of erythropoietin, a hormone that stimulates production of red blood cells. This leads to too many red blood cells, rather than the anemia seen in chronic kidney disease.
Bleeding in a cyst can cause flank pain. Kidney stones are more common in people with PKD.
PKD is associated with the following conditions:
Brain aneurysms
Cysts in the liver, pancreas, and testes
Diverticula of the colon
As many as half of people with PKD have cysts on the liver. A personal or family history of PKD increases your risk for the condition. |
| Diagnosis |
Several diagnostic methods are available to detect the size and number of cysts as well as to evaluate the amount of healthy kidney tissue.
? Ultrasound examination. This is the most commonly used diagnostic method. A wand-like device called a transducer is placed on your body. It emits inaudible sound waves that are reflected back to the transducer — like sonar. A computer translates those reflected sound waves into a moving image of your kidneys.
? Computerized tomography (CT) scan. As you lie on a movable table, you're guided into a big doughnut-shaped device that passes very thin X-ray beams through your body. Your doctor is able to see cross-sectional images of your kidneys.
? Magnetic resonance imaging (MRI) scan. As you lie inside a large cylinder, magnetic fields and radio waves generate cross-sectional views of your kidneys.
? Genetic testing. Gene linkage analysis involves special blood tests for you and for at least three family members who are known either to have or not to have polycystic kidney disease. Then, the results of your blood tests are compared with the results of the tests of your family members. Because this test is so expensive, it's often only used when one family member is considering donating a kidney to another family member.
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| Treatment |
Treating polycystic kidney disease involves dealing with the following signs, symptoms and complications:
? High blood pressure. Controlling high blood pressure may delay the progression of the disease and slow further kidney damage. Combining a low-sodium, low-fat diet that's moderate in protein and calorie content along with eliminating smoking, increasing exercise and reducing stress may help control high blood pressure.
However, medications are often usually needed to control high blood pressure. Medications called angiotensin-converting enzyme (ACE) inhibitors are frequently used to control high blood pressure in people with polycystic kidney disease.
? Pain. Chronic pain, usually located in your back or your side, is a common symptom of polycystic kidney disease. Often, the pain is mild and you can control it with over-the-counter medications containing acetaminophen. For some people, however, the pain is more severe and constant. In rare cases, your doctor may recommend surgery to remove cysts if they're large enough to cause pressure and pain.
? Complications of cysts. Rarely, when kidney cysts cause obstruction of other organs or veins, you may need to undergo surgery to drain the cysts.
? Bladder or kidney infections. Prompt treatment of infections with antibiotics is necessary to prevent kidney damage.
? Blood in the urine. You'll need to drink lots of fluids as soon as you notice blood in your urine, in order to dilute the urine. Dilution may help prevent obstructive clots from forming in your urinary tract. Bed rest also may help decrease the bleeding.
? Kidney failure. If your kidneys lose their ability to remove wastes and extra fluids from your blood, you'll eventually need either dialysis or a kidney transplant.
? Liver cysts. Nonsurgical management of liver cysts includes avoidance of hormone replacement therapy. Other options in rare cases include drainage of symptomatic cysts if they're not too numerous, partial removal of the liver or even liver transplantation.
? Aneurysms. If you have polycystic kidney disease and a family history of ruptured intracranial aneurysms, your doctor may recommend regular screening for intracranial aneurysms. If an aneurysm is discovered, surgical clipping of the aneurysm to reduce the risk of bleeding may be an option, depending on its size. Nonsurgical treatment of small aneurysms may involve controlling high blood pressure and high cholesterol and quitting smoking. |
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