Autosomal dominant polycystic kidney disease

Symptoms

What are the main symptoms of autosomal dominant polycystic kidney disease?

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder. Because of a defective gene, cysts form in the kidneys that can damage the kidneys and impair their function. Cysts can also form in other areas of the body. How ADPKD affects one person can be very different from how it affects another. Some people may never develop symptoms in their lifetime, while others develop kidney failure or other life-threatening complications.

The kidneys major function is filtering the blood of waste materials. The kidneys also help to control the balance of water in the body and regulate the levels of electrolytes. In ADPKD, thousands of cysts may form in the kidneys. The kidneys may grow abnormally large, and weigh as much as thirty pounds. High blood pressure, called hypertension, can sometimes be an early symptom of ADPKD. Other early symptoms are flank and abdominal pain and blood in the urine. The flanks are the areas of the body from the last lower rib to the hips. Some people may have kidney stones (nephrolithiasis). People can have frequent urinary tract infections. Pain can be severe at some times because of the passage of a kidney stone, urinary tract infection, or internal bleeding because of the rupturing of cysts.

The kidneys may slowly have more and more trouble functioning. This is called kidney insufficiency. This can eventually lead to kidney failure, which requires dialysis and a kidney transplant. About 50% of people will develop kidney failure by 50 years of age.

Other areas of the body can develop cysts, particularly the liver. These cysts usually develop later in life than kidney cysts do. These cysts rarely cause problems. When they do, symptoms can be pain and swelling of the abdomen, pain in the abdomen, difficulty breathing, and low back pain.

Cysts can form in the heart affecting the heart valves. There are four valves that regulate the flow of blood through the heart. Cysts in the heart may not cause any symptoms. Sometimes a condition called mitral valve prolapse may develop. The mitral valve connects the upper left chamber of the heart (left atrium) and the lower left chamber of the heart (left ventricle). This condition is marked by the valve bulging upward or backward. This can allow blood to leak back into the ventricle. Another heart problem that people can develop is overgrowth of the left lower chamber of the heart (ventricular hypertrophy). As this condition progresses, people may have problems breathing, be fatigued, experience dizziness, experience palpitations of the heart, and experience chest pain, particularly after exercising. Ventricular hypertrophy is common in children with ADPKD. Some people may have widening or enlargement of the aortic root. This is the point where the aorta (the main artery of the body) connects to the lower right chamber of the heart. This can cause pain in the back and abdominal pain, leg pain, or nerve compression.

About 10% of people may develop intracranial aneurysms. An aneurysm is bulge that develops on the wall of an artery. That section of the wall will balloon outward like a bulge that can develop on the side of a defective tire on a car. These aneurysms often do not cause symptoms. They can push against structures in the brain causing headaches, paralysis of certain facial nerves or seizures. The major concern with intracranial aneurysm is the risk of them rupturing, which can cause severe even life-threatening complications.

Some people have abdominal hernias, which are tears in the abdominal wall that allow part of the intestines to push through. Some people have diverticulosis, a condition where bulges or out-pouches, called diverticula, form on the walls of the colon. These growths can cause abdominal pain, diarrhea or constipation, or bleeding from the rectum.

ADPKD can be a painful condition, most often affecting the lower back, chest, abdomen, and the areas between the last ribs and the hips (flanks). If cysts break open, this can be very painful. Pain may also occur because of heart problems, kidney stones, urinary tract infections or the enlarged kidneys pressing up against other structures.

References
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More Symptoms Content

What parts of the body are affected in autosomal dominant polycystic kidney disease?

What health problems should my doctor be watching for in autosomal dominant polycystic kidney disease?

What is the differences between autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease?

What parts of the body are affected in autosomal dominant polycystic kidney disease?

Although the kidneys are the main organ affected by autosomal dominant polycystic kidney disease (ADPKD), other organs can commonly be affected as well. This is called extrarenal manifestations of the disorder. Because of a defective gene, either the PKD1 or PKD2 gene, cysts form in the kidneys and other organs. How ADPKD affects one person can be very different from how it affects another. Some people may never develop symptoms in their lifetime, while others develop kidney failure or other life-threatening complications.

After the kidneys, the liver is the next organ most commonly affected by cyst development. About 90% of affected people will eventually have cysts in the liver. These cysts usually develop later in life than cysts in the kidney do. These cysts rarely cause problems. When they do, symptoms can be pain and swelling of the abdomen, a feeling of being full after eating a small amount of food, difficulty breathing, backflow of the contents of the stomach into the esophagus (gastroesophageal reflux), and low back pain. Women usually have more cysts than men, and, consequently, have larger livers.

Cysts can form in the heart affecting the heart valves. There are four valves that regulate the flow of blood through the heart. Cysts in the heart may not cause any symptoms. Sometimes a condition called mitral valve prolapse may develop. The mitral valve connects the upper left chamber of the heart (left atrium) and the lower left chamber of the heart (left ventricle). This condition is marked by the valve bulging upward or backward. This can allow blood to leak back into the ventricle. Another heart problem that can develop is overgrowth of the left lower chamber of the heart (ventricular hypertrophy). As this condition progresses, people may have problems breathing, be fatigued, experience dizziness, experience palpitations of the heart, and experience chest pain, particularly after exercising. This condition is common in children with ADPKD.

About 10% of people may develop intracranial aneurysms. An aneurysm is bulge that develops on the wall of an artery. That section of the wall will balloon outward like a bulge that can develop on the side of a defective tire on a car. These aneurysms often do not cause symptoms. They can push against structures in the brain causing headaches, paralysis of certain facial nerves or seizures. The major concern with intracranial aneurysms is the risk of them rupturing, which can cause severe even life-threatening complications.

Some people have abdominal hernias, which are tears in the abdominal wall that allow part of the intestines to push through.

ADPKD can be a painful condition, most often affecting the lower back, chest, abdomen, and the areas between the last ribs and the hips (flanks). If cysts break open, this can be very painful. Pain may also occur because of heart problems, kidney stones, urinary tract infections or the enlarged kidneys pressing up against other structures.

References
What health problems should my doctor be watching for in autosomal dominant polycystic kidney disease?

If there is a family history of autosomal dominant polycystic kidney disease (ADPKD), then people should undergo screening. This involves periodic evaluation through specialized x-ray tests that can show cysts on the kidneys.

The signs and symptoms of ADPKD can be very different in one person when compared to another. This is even true for people in the same family. So, it is very difficult for a primary care physician to diagnose the disorder. Initial signs of ADPKD can include high blood pressure, tears in the walls of the abdomen that allow part of the intestines to push through (abdominal hernias), or enlargement of the kidneys. These findings can prompt a doctor to order x-rays of the kidneys, which can show cysts. X-rays cannot confirm a diagnosis of ADPKD because there are other disorders that cause cysts to form in the kidneys. If a definitive diagnosis is required, molecular genetic testing can be performed. This involves studying the two genes associated with ADPKD for known changes that cause the disorder.

References
What is the differences between autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease?

Autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease are related disorders because both are characterized by cysts that form in the kidneys. In both disorders, cysts may also form in other organs of the body. Autosomal recessive PKD is usually a much more severe disorder than autosomal dominant PKD. Autosomal recessive PKD is caused by a change in both copies of the PHKD1 gene while most people with autosomal dominant PKD have a change in one copy of either the PKD1 or PKD2 gene.

Autosomal recessive PKD is a childhood disorder and most children develop symptoms by adolescence. Most times, the kidneys are enlarged in infancy and the disorder can be fatal during this period. Many affected children have significantly damaged kidney function by adolescence or young adulthood. The severity of the disorder can be different in one person when compared to another. Some require a kidney transplant in childhood, others in young adulthood. Some may not require a kidney transplant until adulthood, while others may never require a transplant.

A medical professional nearby can discuss information about gene changes in these disorders and the difference between autosomal dominant and autosomal recessive inheritance. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

References

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