How Do You Know If Kidneys Are Shutting Down – Alport syndrome is a condition that affects your kidneys. Mutations in your collagen genes cause Alport syndrome. Symptoms include blood and protein in the urine and hearing loss and vision loss. It can also lead to kidney failure. Treatment usually includes ACE inhibitors and ARBs.
Symptoms of Alport syndrome include symptoms affecting urination, blood pressure, vision, and hearing. You may also develop inflammation and flu-like symptoms as your kidney function decreases.
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Type IV collagen consists of three individual collagen chains (alpha chains) linked together like a rope. These chains are alpha 3, alpha 4 and alpha 5. If your body can’t make one of these chains, the other two can’t be combined. This causes the most severe symptoms of Alport syndrome.
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If your body can make all the chains but not one correctly, then sometimes the chains don’t work together and other times the chains work together but not properly. Symptoms of Alport syndrome may be mild in these cases.
Type IV collagen is an important protein in your kidney’s filtration membrane (glomerular basement membrane or GBM).
The GBM is part of a three-layered structure that filters your blood to remove toxins and other materials that your body doesn’t need to urinate (urine). GBM also ensures that materials such as blood cells and proteins stay in the blood instead of passing out in the urine.
If the GBM is not working properly, you may leak blood or protein in your urine. Your kidneys’ ability to filter your urine also deteriorates over time, increasing the risk of complete kidney failure.
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Type IV collagen is also found in your ears and eyes. So if you have Alport syndrome, it can cause problems with your vision and hearing as well as with your kidneys.
XLAS is linked to your X chromosome. Your X chromosome is one of your two sex chromosomes (X and Y). Here is the gene that makes your alpha 5 chain (
Most children and people assigned male at birth (AMAB) have one X chromosome and one Y chromosome. Most women and people assigned female at birth (AFAB) have two X chromosomes. Males only have the abnormal X chromosome, so they have more severe symptoms. Females have one abnormal X chromosome and one normal X chromosome, so their symptoms are usually milder.
Men pass on their Y chromosomes to their children. So I can’t transfer XLAS to them. However, males pass their X chromosomes to all their daughters. As a result, all their daughters have Alport syndrome.
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Females pass on one of their X chromosomes to their offspring. Therefore, any of their children have a 50% chance of passing XLAS.
XLAS is the most common form of Alport syndrome. It accounts for about 60% to 80% of all cases of Alport syndrome.
“Autosomal” refers to the 23 pairs of autosomal genes. Autosomal recessive is an inheritance pattern. If a parent has an autosomal recessive trait, they will not show any symptoms. In order to pass it on to their children, both parents must possess this trait. However, since they don’t have any symptoms, they usually don’t know it. In order for a child to inherit a genetic condition or trait in an autosomal recessive pattern, both parents must pass the mutated gene to their child. About a quarter of children have the autosomal recessive trait in both parents. Only changes in the DNA of the sperm or egg can be passed from parents to children.
In ARAS, mutations occur in two genes on chromosome 2, which code for alpha 3 or alpha 4 proteins. ARAS does not depend on a person’s specific sex, so the heredity and severity of ARAS is the same for everyone.
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If you have ARAS, you have a 50% chance of passing the abnormal genes to any of your biological children. This usually does not cause Alport syndrome. There is a 25% chance that you will pass the same abnormal genes to your biological children. If this happens, your child has ARAS.
“Dominant” is a disease that requires a mutation in only one gene of a pair to develop the disease. In ADAS, a mutation occurs in one of the genes on chromosome 2 that encodes it
ADAS does not depend on a person’s specific gender, so the genetics and severity of ARAS is the same for everyone.
If you have ADAS, there is a 50% chance that your biological children will pass on the abnormal gene, in which case they will develop ADAS.
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It is a genetic condition, meaning that one or both biological parents pass it on to their child. However, in 15% of cases it can develop if both parents do not have the mutated gene.
Medical researchers estimate that fewer than 200,000 people in the United States have Alport syndrome. Worldwide, the prevalence is estimated to be 1 in every 50,000 live births. However, as researchers study Alport syndrome, more and more people are recognizing a milder form of the condition. Consequently, Alport syndrome may be more common than current data suggest.
When you have Alport syndrome, the basement membrane of the glomeruli doesn’t filter properly, causing blood and protein to leak into your urine. However, it lacks support for cells placed on either side. As a result, the cells become irritated and inflamed. Podocytes are the cells that make up the GBM and try to deposit more type IV collagen in the GBM when the surrounding cells are inflamed. When this happens, GBMs become dense and disorganized. This causes protein to pass through your urine (proteinuria).
Over time, as more protein is excreted in your urine and your GBM thickens, scar tissue may grow (fibrosis). As a result, your kidneys’ ability to clean your blood begins to decline (chronic kidney disease). As the scar tissue grows, your kidney function deteriorates until your kidneys stop working (renal failure).
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The first symptom of Alport syndrome is microscopic hematuria. Microscopic hematuria occurs because your abnormal GBM releases red blood cells into your urine. You can’t see blood cells with the naked eye – you can only see them under a microscope. All children with XLAS and those with ARAS have microscopic hematuria at birth. Most women with XLAS eventually develop microscopic hematuria. Not everyone with ADAS develops microscopic hematuria.
As your kidney function begins to decline, chronic kidney disease (CKD) develops. Most people do not have symptoms of CKD until their kidneys fail.
Hearing loss is more common in males with XLAS and in those with ARAS. However, it can happen to anyone with Alport syndrome. Hearing loss is usually gradual. Many people don’t realize they have hearing loss until it becomes more severe. Many people have difficulty hearing high-pitched sounds, although some people cannot hear sounds at all. You may need hearing aids. In severe cases, complete hearing loss (deafness).
Many eye problems can arise. Some people scratch the surface of their eye more often (corneal abrasion), which can take longer to heal. Corneal scratches can make your eyes watery and hurt, but they usually don’t impair vision. Some people also have problems with the clear part of the eye that helps focus their vision (the lens), which can eventually lead to cataracts.
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If you have Alport syndrome and have problems with your hearing or vision, contact your doctor immediately.
Alport syndrome is a genetic condition, meaning that one or both of your biological parents must pass it on to you.
If you have microscopic hematuria or chronic kidney disease, your healthcare provider may raise Alport syndrome as a concern. If you have a biological family history of Alport syndrome, testing can help diagnose it. If no one in your family has Alport syndrome, your doctor can diagnose you based on your history and additional tests.
A health care provider will examine your symptoms and ask about your biological family history. Various tests can help doctors diagnose Alport syndrome. These tests include:
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There is no cure for Alport syndrome. Researchers are working on gene therapies that correct abnormal genes, but have not yet been successful. If they develop a successful gene therapy, it won’t be available for years. However, there are now treatments available to delay kidney loss and kidney failure.
Yes and no. A kidney transplant will give you a kidney with normal type IV collagen and a filter membrane. As a result, Alport syndrome does not recur in new kidneys.
However, a kidney transplant will not help other symptoms of Alport syndrome, such as hearing loss or eye problems.
You can’t prevent Alport syndrome, but knowing your family history can help you catch it early. Awareness can prevent you from passing it on to your biological child.
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Early diagnosis of Alport syndrome and initiation of therapy with ACE inhibitors/ARBs and SGLT-2 inhibitors is the best way to delay renal failure.
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