Autosomal Dominant Polycystic Kidney Disease (ADPKD) remains a leading cause of the end-stage renal disease (ESRD). Worldwide, ADPKD affects about 4 to 7 million people and accounts for 7 to 15 percent of patients undergoing renal replacement therapy. PKD affects about 500,000 people in the United States. In Europe and North America, ADPKD accounts for 6 to 10 percent of ESRD cases.
Polycystic kidney disease (PKD), is a genetic disorder that causes clusters of cysts to develop primarily in your kidneys. This makes your kidney to enlarge and overtime loses its functions. Cysts are noncancerous sacs filled with fluid. They vary in size and can become very large. The presence of many cysts or large cysts can destroy your kidneys. Polycystic kidney disease can also make cysts form in your liver and other parts of your body. The disease can result in serious complications, that include kidney failure and high blood pressure.
The severity of PKD varies greatly, and some complications are avoidable. Treatments and Lifestyle changes might help lessen the damage to your kidneys from complications.
Causes of Polycystic Kidney Disease
Abnormal genes are responsible for polycystic kidney disease. This implies that the disease runs in families. Genetic mutation rarely takes place on its own, without any of the parents having a copy of the mutated gene.
There are two main types of polycystic kidney disease as a result of different genetic defects, these include:
- Autosomal dominant polycystic kidney disease (ADPKD): In most cases, symptoms and signs of ADPKD develop between the ages of 30 and 40. ADPKD was formerly referred to as adult polycystic kidney disease, however, children can also develop the disorder. In this type of PKD, cysts develop only within your kidneys.
In ADPKD, either of the parents can have the disease for it to pass to the children. If either of the parents has ADPKD, each child has a 50 percent likelihood of developing the disease. ADPKD accounts for close to 90 percent of all cases of polycystic kidney disease.
- Autosomal recessive polycystic kidney disease (ARPKD): Also known as Infantile PKD.In this type of PKD, cysts develop bothwithin the liver and the kidneys.This type is less common than ADPKD. The symptoms and signs most times appear shortly after birth (first few months). Often, the symptoms might not appear until later in childhood or during adolescence.
In ARPKD, both parents must have the abnormal genes to pass this disease on to their children. If both parents have the gene for this disorder, the probability of each child having the disease is 25 percent.
Symptoms of Polycystic Kidney Disease
The symptoms of polycystic kidney disease can include:
- Back or side pain
- High blood pressure
- Kidney failure
- Blood in the urine
- Kidney stones
- A feeling of fullness within your abdomen
- Urinary tract infection
- Kidney infection
- Increased size of your abdomen as a result of enlarged kidneys.
Prevention of Polycystic Kidney Disease
You cannot prevent either form of PKD. That said, if you have PKD, and you plan to make babies, you must discuss this with a genetic counselor to evaluate your risk of passing the disease to your offspring.
Furthermore, keeping your kidneys healthy can prevent you from having some of the complications of PKD. Managing your blood pressure is one of the most important ways you can keep your kidneys healthy.
Some tips that can help you keep your kidneys healthy include:
- Maintain a healthy weight, ask your doctor what is your ideal weight
- Avoid smoking
- Limit alcohol intake
- Keep a healthy blood pressure
- Exercise regularly, at least 30 minutes daily
- Eat a low-salt diet
- Keep a healthy blood sugar level
- Avoid taking over-dose of over-the-counter drugs
Diagnosing Polycystic Kidney Disease
Your doctor can conduct some tests to detect the number and size of kidney cysts affected and assess the amount of healthy kidney tissue. Some of the common tests include:
- CT scan: Your doctor can observe your kidneys through a CT scan.
- Ultrasound: During an ultrasound, your doctor places a device known as a transducer on your body. The transducer emits sound waves from your body; these sound waves are translated by the computer into images.
- MRI scan: Your doctor can use magnetic resonance imaging to generate cross-sectional views of your kidneys.
Complication of PKD
Some common complications associated with polycystic kidney disease include:
- High blood pressure: If untreated this can cause further damage to your kidneys and can also result in heart disease and stroke
- Liver cysts: If you have PKD, your likelihood of developing cysts in your liver increases with age.
- Loss of kidney functions: This is one of the most serious complications of PKD. This tends to worsen with age. Studies show that close of half of people with PKD will have kidney failure by 60.
PKD can result in a condition known as Uremia. Uremia prevents your kidney from keeping waste to toxic levels. Severe PKD can lead to end-stage kidney (renal) failure. You may need a kidney transplant or dialysis to prolong your life.
- Heart valve abnormalities. This is a condition that causes a prolapse in the mitral valve. Research shows that 1 in 4 adults with polycystic kidney disease get mitral valve prolapse. The condition prevents the valve from closing properly thereby causing your blood to leak backward.
- Colon problems. PKD can result in weaknesses and pouches or sacs in the wall of the colon (diverticulosis).
- Development of an aneurysm in the brain: People with PKD are at higher risk of developing a condition known as Aneurysm. An aneurysm is a condition in that brain that could result in hemorrhage when there is a rupture.
- Chronic pain. Most people with PKD experience chronic pain. This can occur either at the side or back. The pain could also be as a result of kidney stones, urinary tract infection or a malignancy.
Treatment for Polycystic Kidney Disease
Based on current research, PKD does not have a cure; however, treating PKD involves dealing with the symptoms, signs, and complications in their early stages. The earlier you know that you or your child has PKD, the better your chances of slowing down the progression of the disorder. Some ways to slow PKD progression include:
- High blood pressure: Always aim for a blood pressure goal of below 120/80. You can ask your doctor for medication that can help you manage your blood pressure. Discuss with a dietician which food and drinks are okay for your health. Other things that can help your blood pressure include quitting smoking, losing weight (if obese or overweight), reducing stress, and getting enough exercise daily.
- Pain: Over-the-counter medications that contain acetaminophen can help you control PKD pain.
- Kidney or Bladder infections: Your doctor can advise on which antibiotics to take to prevent kidney damage.
- Blood in the urine: Drinking a lot of fluids especially plain water can help dilute your urine If you notice blood in your urine.
Early detection and prompt treatment remain the ways to prevent polycystic kidney disease from damaging your kidney. If you notice some of the symptoms in you or your child, go for tests without delay and discuss with your doctors how best to slow down the disease from progressing to kidney failure.