Some rare, or less common, diseases can cause kidney damage that leads to chronic kidney disease and kidney failure. Some of these rare diseases include Alport syndrome, amyloidosis, Goodpasture syndrome, and Wegener’s granulomatosis. These disease may harm the kidneys, as well as other organs and tissues.

Alport syndrome

Alport syndrome is a genetic disease. This means that people with Alport syndrome are born with it. It is caused by problems with three genes that control the way certain parts of your body are shaped. When there are problems with these genes, parts of your kidneys, ears and eyes do not grow correctly. Alport syndrome always causes kidney disease, and can cause hearing loss and eye problems.

The first sign of Alport syndrome is usually blood in the urine . You usually will not notice the blood in your urine, because it can only be seen using a microscope. Over time, when the kidney damage gets worse, you might notice protein in your urine and high blood pressure. These are all signs of chronic kidney disease. Chronic kidney disease can lead to kidney failure. Kidney failure happens more often in men with Alport syndrome than in women with Alport syndrome.

If your doctor thinks you or your child might have Alport syndrome, the following tests might be done to make a diagnosis:

  • Urine tests
  • Blood tests 
  • Urine tests on relatives
  • Hearing and vision tests
  • Kidney ultrasound
  • Kidney biopsy
  • Skin biopsy
  • Genetic tests

There is no cure for Alport syndrome, but there are treatments that can help protect your kidneys. Blood pressure medicines called angiotensin converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs) can help keep your kidneys working longer. If your kidneys fail you will need dialysis or a kidney transplant  to survive. Kidney transplant has worked very well in people with Alport syndrome.

More information about Alport syndrome, its symptoms, diagnosis and treatment can be found at the following websites:

Alport Syndrome Foundation
The National Library of Medicine’s Genetic Home Reference
The National Organization for Rare Disorders

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Amyloidosis

Amyloidosis (am-il-oyd-OH-sis) is a disease that causes proteins called amyloids to build up inside your organs and tissues. When these proteins build up, they form clumps that damage the tissue around them. These clumps can form in the kidneys, heart, brain, liver and intestines. When kidney tissue is permanently damaged, it is called chronic kidney disease (CKD). CKD can lead to kidney failure.

The two types of amyloidosis that often affect the kidneys are called primary amyloidosis and dialysis-related amyloidosis. Doctors and researchers are not sure what causes primary amyloidosis. Dialysis-related amyloidosis happens to people who have kidney failure and have been on dialysis for a long time. Dialysis does a good job cleaning your blood, but it does not work as well as healthy kidneys. It cannot remove all of a protein called beta-2-microglobulin, so this protein builds up in the blood and forms clumps in organs and tissues.

The most common sign of primary amyloidosis is nephrotic syndrome, which is a group of symptoms that includes:

The most common symptoms of dialysis-related amyloidosis are:

  • Joint pain and stiffness
  • Cysts (fluid-filled sacs) in bones
  • Numbness or tingling in hands and fingers

If your doctor thinks you might have primary amyloidosis, you might need to have blood and urine tests and a kidney biopsy. If your doctor thinks you might have dialysis-related amyloidosis, you may need blood and urine tests , as well as imaging tests, such as X-rays and CT scans.

Both primary and dialysis-related amyloidosis can be treated. Primary amyloidosis can be treated using medicine called chemotherapy. It can also be treated by having a stem cell transplant. Other treatment can help you manage the side effects of primary amyloidosis. Dialysis-related amyloidosis can be treated using medicine, better hemodialysis filters, surgery or a kidney transplant.

More information about primary and dialysis-related amyloidosis is available from the National Institute of Diabetes and Digestive and Kidney Diseases.

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Goodpasture syndrome

Goodpasture syndrome is a group of conditions that affects the kidneys and the lungs. It includes glomerulonephritis, bleeding in the lungs, and a problem with your immune system that causes it to attack the tiny filters in your kidneys and the tissue in your lungs. The damage to your kidneys can lead to chronic kidney disease and kidney failure. If Goodpasture syndrome is not diagnosed and treated quickly, it can cause death.

Doctors and researchers are not sure what causes Goodpasture syndrome. Some behaviors, such as smoking and using hair dye, might make you more likely to get Goodpasture syndrome.

The first signs of Goodpasture syndrome usually include tiredness, nausea, vomiting and weakness. The disease can get worse very quickly, and can cause coughing and make it hard for you to catch your breath. Kidney problems can begin at the same time as the lung problems, and might include:

If your doctor thinks you could have Goodpasture syndrome, you might need to have blood and urine tests, a chest X-ray and a kidney biopsy. If your tests show that you have Goodpasture syndrome, your doctor might tell you to take medicines to weaken your immune system. These medicines are called immunosuppressants. Another treatment option is called plasmapheresis (plaz-muh-fuh-REE-sis), which also helps to weaken your immune system by taking out some of the tools it uses to attack your tissues. Most of the time, the damage to your lungs is not permanent, but the damage to your kidneys is permanent. If your kidney damage leads to kidney failure, you will need dialysis or a kidney transplant to survive.

More information about the symptoms, diagnosis and treatment of Goodpasture syndrome is available from the National Institute of Diabetes and Digestive and Kidney Diseases.

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Wegener’s granulomatosis

Wegener’s granulomatosis, now known as granulomatosis with polyangiitis (GPA), is a disease that causes swelling and irritation of blood vessels in the kidneys, nose, sinuses, throat and lungs. Swollen blood vessels make it harder for blood to get to the organs and tissues that need it, which can be harmful. The disease also causes lumps called granulomas to form and damage the area around them. In some people GPA only affects the lungs. GPA that affects the kidneys can lead to chronic kidney disease and kidney failure.

The first signs of GPA are usually in your nose, sinuses, throat or lungs. You may notice a runny nose, sinus infections or nosebleeds. Other signs might include:

  • Coughing 
  • Trouble catching your breath
  • Wheezing
  • Fever 
  • Feeling achy 
  • Numbness in your arms, legs, fingers or toes

You might not notice any symptoms if GPA is affecting your kidneys. Signs of kidney problems might only show up in blood and urine tests, but if you do have symptoms, you might notice blood in your urine. GPA can get worse very quickly. If you notice a runny nose that won’t go away, bloody noses, or coughing up blood, see a doctor right away. GPA can get worse quickly and it is important to treat it early to prevent permanent organ damage, such as kidney failure.

If your doctor thinks you could have GPA, you might need to have blood and urine tests , chest X-rays, CT scans or MRI scans, and biopsies. If your tests show that you have GPA, your doctor might tell you to take medicines that control inflammation (swelling and irritation) and weaken your immune system. These medicines are called immunosuppressants. Another treatment option to weaken your immune system is called plasmapheresis (plaz-muh-fuh-REE-sis). Other treatments can help manage side effects and prevent complications. If GPA causes your kidneys to fail, you will need dialysis or a kidney transplant.

More information about the symptoms, diagnosis and treatment of GPA is available from the Mayo Clinic and MedlinePlus.

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