Symptoms of Polycystic Kidney Disease
Identifying if you are at risk for Polycystic Kidney Disease (PCD) is an important part of managing your health. It’s vital to get a diagnosis as soon as possible so that you can treat your condition and avoid complications.
Diagnosis
Symptoms of polycystic kidney disease vary from patient to patient, depending on age, genetics, and environmental factors. If you have been diagnosed with this condition, you may experience kidney failure, kidney stones, and cardiovascular diseases. It is important to get a diagnosis of this condition as soon as possible. You can ask your doctor to perform a genetic test if you have a family history of this disease.
There are three main types of inherited forms of polycystic kidney disease. The first is autosomal dominant. This type of polycystic kidney disease is caused by a mutation in the PKD1 or PKD2 gene.
Another form of inherited polycystic kidney disease is autosomal recessive. This is less common than autosomal dominant PKD, and symptoms typically begin during the early years of life. The severity of the disease can vary from mild to severe, depending on the mutant gene.
If you have been diagnosed with autosomal recessive PKD, you may also have problems with your liver. In fact, about a third of patients with this type of polycystic kidney disease have liver problems in adulthood. You should have blood cultures done to check for bacteria that can cause infection. Typical treatments for urinary tract infections include antibiotics such as cefotaxime, terbinafine, and imipenem.
Children who have this type of polycystic kidney disorder may develop kidney failure as early as two or three years of age. They are at risk for end-stage renal disease, which is the most severe form of the disease.
If you are a young adult, you can have a screening ultrasound of your kidneys. If the imaging results are not conclusive, you may have to undergo an exploratory laparotomy to confirm the diagnosis.
In many cases, the diagnosis of polycystic kidney disease is made using a combination of diagnostic tests. This can be very time-consuming. The results of these tests can take a long time to come back. This can be especially true for asymptomatic patients. You may be advised to avoid testing if you are asymptomatic or have a milder form of the disease.
Treatment
PKD is an inherited disease that affects the kidneys. When the gene is mutated, it causes fluid-filled cysts to form in the kidneys. These cysts can cause infection and pain. They may also appear in the liver or pancreas. If they grow too large, they can damage the kidneys.
Symptoms include pain and swelling in the loin and a tendency to urinate often. People with polycystic kidneys are at risk of developing high blood pressure and kidney stones. The disease is considered one of the most serious kidney diseases.
When a person is diagnosed with PKD, his or her doctor will monitor the condition with blood tests to determine if the kidneys are working properly. If they are not, the doctor may recommend dialysis or a kidney transplant.
If the cysts are infected, the infection can be treated with antibiotics. The pain can be controlled with medicines, and bed rest can be recommended to increase the flow of urine. In severe cases, surgery may be required to remove the cyst.
Typically, a medical needle is inserted into the skin and the cysts are drained. This requires a radiologist who has been trained in the appropriate technique.
The treatment will vary depending on the type of PKD. Some types are treated conservatively with antibiotics and surgery. Other types require dialysis or a kidney transplant. Some people also have to use drugs to control their pain and reduce the rate of the formation of cysts.
Genetic research is helping to learn more about the causes of PKD. When a person has a mutation in the polycystin gene, it can cause extra-renal symptoms such as liver and lung problems. In a small percentage of cases, a de novo mutation occurs.
The average life expectancy for patients with autosomal dominant polycystic kidney disease is 53 to 70 years. Children are at a higher risk for exhibiting signs of the disease at an early age. They are also at a higher risk for intracranial aneurysms.
If a child develops PKD, the parent has a 50% chance of passing the faulty gene on to the child. In addition, if both parents have the gene, there is a 25% chance that the child will develop the disease.
Complications
Various complications of polycystic kidney disease can occur. They can include high blood pressure, heart problems, and kidney damage. There is no cure for the disease, but a healthy lifestyle can help prevent and delay the progression of kidney failure.
Polycystic kidney disease is caused by a mutation in one of two genes. The gene is referred to as PKD1 or PKD2. The disease is hereditary. Children inherit one copy of the gene from each parent. Those who have two copies are known as heterozygotes. However, people can also have a de novo (or spontaneous) mutation.
Polycystic kidney disease affects the glomeruli, the small arteries that filter waste products from the bloodstream. When the cells of the glomeruli grow and multiply, they cause cysts to form in the kidney. This causes enlargement of the kidney and can lead to failure.
In addition to kidney failure, other complications of polycystic kidney disease include high blood pressure and aneurysms. Some of these complications may require medical intervention.
The most common form of polycystic kidney disease is autosomal dominant PKD. It can be diagnosed in patients with abdominal pain or flank pain. The disease is caused by a genetic change that increases cell growth in the kidneys. It is common in children, but it can also occur in adults.
The disease may go undetected for years. A doctor will do an imaging study to look for cysts in the kidney. The test uses a movable table to project thin X-ray beams through the body. This allows the doctor to see the cross-sectional views of the kidneys.
If there is a family history of polycystic kidney disease, the doctor may recommend genetic testing. This is important to know if the person has a risk of passing the disease to their children. A genetic counselor can help the patient understand the risk and discuss screening tests.
The most severe complication of polycystic kidney disease is a progressive loss of kidney function. If left untreated, this condition can increase a patient’s risk of heart attack, stroke, and cardiovascular problems. A person with polycystic kidney disease should follow a healthy diet and exercise regularly. Keeping a low-salt diet with fruits and vegetables can help control high blood pressure.
Prevention
Symptoms of polycystic kidney disease include blood in the urine, high blood pressure, fullness of the abdomen, and pain in the back, side, or legs. Treatment aims to slow the progression of the disease. It can include surgery, dialysis, or kidney transplant.
Polycystic kidney disease is a genetic disorder that causes cysts to grow in the kidneys. The cysts interfere with the kidney’s ability to filter waste products from the blood. As the cysts grow, they can block normal kidney tissue and cause kidney failure. In some cases, cysts develop in other organs, such as the liver or spleen.
The risk of developing polycystic kidney disease is increased in people who have a family history of the condition. Women are at the highest risk. They are also at higher risk for preeclampsia, a life-threatening disorder. The condition can go undetected for years.
The disease is caused by an abnormal gene that is passed down through the family. There are two types of inherited PKD. Autosomal dominant polycystic kidney disease is the most common type. It is a disease of the kidney that is caused by a mutation on chromosome 4 that encodes the glucosidase II subunit alpha.
In addition to kidney failure, PKD is associated with aneurysms and heart valve abnormalities. These aneurysms may rupture and cause bleeding in the brain. These conditions are serious, and people who have a family history of them are at high risk.
If you have a first-degree relative with polycystic kidney disease, it is a good idea to talk to your doctor about screening. There are a few simple tests that can detect other kidney diseases and help with prevention. It is recommended that these tests be done in one- to two-year intervals.
You can also talk with your doctor about lifestyle changes that may reduce the amount of damage to your kidneys. You can also reduce your risk of complications by controlling your blood pressure. It is important to have your blood pressure checked regularly. You should also consult with a genetic counselor. Having a genetic counselor can help you understand the risks and benefits of your family’s health and give you information about screening.
Health Sources:
Health A to Z. (n.d.). HSE.ie. https://www2.hse.ie/az/
U.S. National Library of Medicine. (n.d.). https://www.ncbi.nlm.nih.gov/
Directory Health Topics. (n.d.). https://www.healthline.com/directory/topics
Health A-Z. (2022, April 26). Verywell Health. https://www.verywellhealth.com/health-a-z-4014770
Harvard Health. (2015, November 17). Health A to Z. https://www.health.harvard.edu/health-a-to-z
Health Conditions A-Z Sitemap. (n.d.). EverydayHealth.com. https://www.everydayhealth.com/conditions/