Know anything about polycystic kidney disease?I might have it and I'm really worried about what the results will be... please tell me what you know about it.. can you die from it?
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Polycystic kidney disease is a disorder in which clusters of cysts develop primarily within your kidneys. Cysts are noncancerous (benign) round sacs of 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 in your liver, pancreas, membranes that surround your brain and central nervous system, and seminal vesicles.
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 affects more than 12 million people worldwide. The 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.
Signs and symptoms
Signs and symptoms of polycystic kidney disease 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
Kidney stones
Kidney failure
Kidney infections
Headache
Causes
Cysts are noncancerous (benign), round sacs that contain water-like fluid. They vary in size from tiny sacs to sacs large enough to hold several quarts of fluid. Having one or more benign kidney cysts is common, especially in people older than 50. A benign, simple kidney cyst doesn't require treatment. And having one or more kidney cysts doesn't mean you have polycystic kidney disease.
Abnormal genes cause polycystic kidney disease, and the genetic defects mean the disease runs in families. The disease has two types, caused by different genetic flaws:
Autosomal dominant polycystic kidney disease (ADPKD). Signs and symptoms of this form often develop between the ages of 30 and 40. In the past, this type was called adult polycystic kidney disease, but in a small number of cases children do develop the disorder. Only one parent needs to have the disease in order for it to pass along to the children. If one parent has ADPKD, each child has a 50 percent chance of getting the disease. This form accounts for about 90 percent of cases of polycystic kidney disease.
Autosomal recessive polycystic kidney disease (ARPKD). This form is far less common than ADPKD, occurring only in one in 20,000 births in the United States. The signs and symptoms often appear shortly after birth. Sometimes, symptoms don't appear until later in childhood or during adolescence. Both parents must have abnormal genes to pass on this form of the disease. If both parents carry the genes for this disorder, each child has a 25 percent chance of getting the disease.
Research has identified two genes associated with ADPKD and one associated with ARPKD. Though it hasn't been identified, scientists suspect there is a third gene responsible for some forms of ADPKD.
About one person in 10 with polycystic kidney disease has no family members with the disorder. In these cases, instead of inheriting a defective gene, the gene spontaneously mutates, causing polycystic kidney disease.
A healthy kidney (left) eliminates waste from the blood and maintains the body's normal chemical balance. Fluid-filled sacs (right), called cysts, characterize autosomal dominant polycystic kidney disease.
In an autosomal dominant disorder, the mutated gene is dominant, which means you only need one mutated gene to have the disorder. A person with an autosomal dominant disorder ? in this case, the father ? has a 50 percent chance of having an affected child with one mutated gene (dominant gene) and a 50 percent chance of having an unaffected child with two normal genes (recessive genes). These chances are the same in each pregnancy.
In an autosomal recessive disorder, the mutated gene is recessive, which means it won't express its trait when paired with a normal, dominant gene. To have an autosomal recessive disorder, you inherit two mutated genes ? one from each parent. Most often, these disorders are passed on by two carriers. Their health is rarely affected, but they have one mutated gene (recessive gene) and one normal gene (dominant gene) for the condition. Two carriers have a 25 percent chance of having an unaffected child with two normal genes (left), a 50 percent chance of having an unaffected child who also is a carrier (middle), and a 25 percent chance of having an affected child with two recessive genes (right). These chances are the same in each pregnancy.
When to seek medical advice
It's not uncommon for people to have polycystic kidney disease for years without developing signs or symptoms and without knowing they have the disease. If you exhibit some of the signs and symptoms of polycystic kidney disease, which include high blood pressure, an increase in the size of your abdomen, blood in your urine, back or side pain, or kidney stones, see your doctor to determine what might be causing them. If you have a first-degree relative — parent, sibling or child — with ADPKD, see your doctor to discuss the pros and cons of screening for this disorder.
Screening and 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 your kidneys in two-dimensional images.
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.
Complications
High blood pressure is a common complication of polycystic kidney disease. Untreated, high blood pressure can cause further damage to your kidneys and increase your risk of heart disease and stroke.
Loss of kidney function
Progressive loss of kidney function is one of the most serious complications of polycystic kidney disease. Nearly half of those with the disease have kidney failure by age 60, and about 60 percent will have kidney failure by age 70. If you have high blood pressure or blood or protein in your urine, you have a greater risk of kidney failure.
Polycystic kidney disease causes your kidneys to gradually lose their ability to eliminate wastes from your blood and maintain your body's balance of fluids and chemicals. As the cysts enlarge, they produce pressure and promote scarring in the normal, unaffected areas of your kidneys. These effects promote high blood pressure and interfere with the ability of your kidneys to keep wastes from building to toxic levels, a condition called uremia.
As the disease worsens, end-stage kidney (renal) failure may result. When end-stage renal failure occurs, you'll need ongoing kidney dialysis or a transplant to prolong your life.
Other complications of polycystic kidney disease may include:
Pregnancy complications. Most women — up to 80 percent — with polycystic kidney disease can have an uneventful pregnancy. Others may develop a life-threatening disorder called preeclampsia. Those most at risk are women who have high blood pressure before they become pregnant.
Growth of cysts in your liver. The likelihood of developing liver cysts for someone with polycystic kidney disease increases with age. About two-thirds of people with this disorder will develop liver cysts at some point in their lifetime. While both men and women develop cysts, women often develop larger cysts and get them at an earlier age. Cyst growth appears to be aided by female hormones. Liver cysts are more frequent in women who've been pregnant.
Development of an aneurysm in your brain. Localized enlargement of an artery in your brain can cause a hemorrhage if it ruptures. Aneurysms tend to run in families and are present in between 5 percent and 10 percent of people with polycystic kidney disease.
Heart valve abnormalities. Nearly one-quarter of adults with polycystic kidney disease develop mitral valve prolapse. When this happens, the valve no longer closes properly, which allows blood to leak backward.
Colon problems. You may develop hernias, and pouches or sacs in the wall of the colon (diverticulosis).
Chronic pain. Pain is a common symptom for people with polycystic kidney disease. It often occurs in your side or back.
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 usually needed to control high blood pressure. The medications known as angiotensin-converting enzyme (ACE) inhibitors are frequently used for controlling 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 blood in the urine is noted, 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 either need 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.
Coping skills
As is the case with other chronic illnesses, having polycystic kidney disease may make you feel overwhelmed or helpless. But you don't have to deal with your illness alone. The support of friends and family is important in dealing with a chronic illness. In addition, a counselor, a psychologist, a psychiatrist or a clergy member may be able to help.
You may also want to consider joining a support group. Although support groups aren't for everyone, they can provide helpful information about treatments and coping. And being with people who understand what you're going through may make you feel less alone. Ask your doctor about support groups in your community.
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