What Can Cause High Protein Levels In Urine – 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, as well as hearing and vision loss. It can also cause kidney failure. Treatment often includes ACE inhibitors and ARBs.

Characteristics of Alport syndrome include symptoms that affect your urine, blood pressure, vision, and hearing. You may also experience swelling and flu-like symptoms as your kidney function declines.

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Type IV collagen consists of three separate collagen chains (alpha chains) that twist together like a rope. The chains are alpha 3, alpha 4, and alpha 5. If your body doesn’t make one of these chains, the other two can’t combine. This leads to the most severe symptoms of Alport syndrome.

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If your body makes all the chains but doesn’t make one correctly, sometimes the chains can’t come together, and other times the chains connect but don’t function properly. In these cases, the symptoms of Alport syndrome may be milder.

Type IV collagen is an important protein in the filtration membranes of your kidneys (glomerular basement membranes or GBM).

The GBM is part of a three-layered structure that filters your blood to remove toxins and other contents that your body doesn’t need to make urine (urine). GBM also makes sure that things like blood cells and proteins stay in the blood and don’t end up in the urine.

If the GBM is not working properly, blood or proteins may leak into your urine. Your kidneys’ ability to filter your urine also deteriorates over time, increasing your risk of full-blown kidney failure.

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Type IV collagen is also present in your ears and eyes. So, if you have Alport syndrome, it can cause vision and hearing problems, as well as kidney problems.

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XLAS refers to your X chromosome. Your X chromosome is one of your two sex chromosomes (X and Y). This is where the gene that produces your alpha 5 chain (

Most men 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. Men only have the abnormal X chromosome, so they are more likely to have more severe symptoms. Women have one abnormal X chromosome and one normal X chromosome, so their symptoms are usually milder.

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Males pass their Y chromosome to their male children. So they cannot transfer XLAS to them. However, males pass the X chromosome on to all their female children. As a result, all their female children will have Alport syndrome.

Women pass on one of their X chromosomes to their child of either sex. Therefore, they have a 50% chance of passing XLAS to any of their children.

XLAS is the most common type of Alport syndrome. It accounts for approximately 60% to 80% of all cases of Alport syndrome.

“Autosomal” refers to 23 pairs of autosomal genes. Autosomal recessive type of inheritance. If one parent has the autosomal recessive trait, they will not show any symptoms. In order to pass it on to their children, both parents must have the trait. However, because they don’t have any symptoms, they often don’t even know they have it. Both parents must pass on the changed gene to their child in order for the child to inherit the genetic disease or trait in an autosomal recessive pattern. One quarter of children will get the autosomal recessive trait if both parents have it. Only changes that occur in the DNA of a sperm or egg can be passed on to children from parents.

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ARAS has a mutation in both genes on chromosome 2, which encode the proteins alpha 3 or alpha 4. ARAS is independent of a person’s assigned sex, so the heritability and severity of ARAS is the same in everyone.

If you have ARAS, you have a 50% chance of passing on one of the abnormal genes to any of your biological children. This usually does not lead to Alport syndrome. There is a 25% chance that both abnormal genes will be passed on to your biological children. If this happens, your child will have ARAS.

“Dominant” refers to a disease that requires the mutation of only one of the genes in a pair to develop the disease. ADAS has a mutation in one of the genes on chromosome 2 that encodes

ADAS is independent of a person’s assigned sex, so the heritability and severity of ARAS is the same in everyone.

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If you have ADAS, you have a 50% chance of passing on the abnormal gene to your biological children, in which case you will develop ADAS.

It is an inherited condition, meaning that one or both biological parents pass it on to their child. However, in about 15% of cases, it can develop if neither parent has the mutated gene.

Medical researchers estimate that fewer than 200,000 people in the United States have Alport syndrome. Worldwide, they estimate a prevalence of 1 in every 50,000 live births. However, as researchers continue to study Alport syndrome, they are finding more people with milder forms of the disease. As a result, Alport syndrome may be more common than currently available evidence suggests.

When you have Alport syndrome, the glomerular basement membranes don’t filter properly, so blood and protein end up in your urine. However, it is also not so favorable for the cells that line both sides of it. As a result, the cells become irritated and inflamed. Podocytes are the cells that make the GBM, and they try to inject more type IV collagen into the GBM when the surrounding cells become inflamed. When this happens, GBMs become thicker and disorganized. This causes protein to leak into the urine (proteinuria).

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Over time, as more protein enters your urine and as your GBMs become thicker, scar tissue (fibrosis) can develop. As a result, the ability of the kidneys to clean the blood begins to decline (chronic kidney disease). As scar tissue develops, kidney function deteriorates until the kidneys stop working (kidney failure).

The first sign of Alport syndrome is microscopic hematuria. Microscopic hematuria is caused by your abnormal GBM leaking red blood cells into your urine. You can’t see blood cells with the naked eye – they can only be seen under a microscope. Males who have XLAS and all who have ARAS will have microscopic hematuria at birth. Most women who have XLAS develop microscopic hematuria over time. Not everyone with ADAS will develop microscopic hematuria.

When kidney function begins to deteriorate, chronic kidney disease (CKD) develops. Most people have no symptoms of CKD until kidney failure occurs.

Hearing loss is more common in men with XLAS and people with ARAS. However, it can happen to anyone with Alport syndrome. Hearing loss usually occurs gradually. Many people don’t realize they have hearing loss until it becomes more severe. Most people have a harder time hearing high-pitched sounds, although some people can stop hearing sounds over time. Eventually, you may need hearing aids. In severe cases, complete hearing loss (deafness) occurs.

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You may have various eye problems. Some people are more likely to scratch the surface of their eyes (corneal scratch), which can take a long time to heal. Corneal abrasions can cause watery eyes and pain, but usually do not cause vision loss. Some people also have problems with the clear part of the eye that helps focus vision (the lens), which can eventually lead to cataracts.

If you have Alport syndrome and experience problems with your hearing or vision, see your doctor right away.

Alport syndrome is an inherited condition, which means 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 ask about Alport syndrome. If you have a biological family history of Alport syndrome, screening can help diagnose it. If no one in your family has Alport syndrome, your provider can diagnose you based on your history and additional tests.

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A health care professional will review your symptoms and ask about your biological family history. A variety of tests can also help a provider diagnose Alport syndrome. These tests include:

There is no cure for Alport syndrome. Researchers are working on gene therapy techniques that correct abnormal genes, but have so far been unsuccessful. If they can develop a successful gene therapy, it won’t be available for many years. However, treatments are now available that slow kidney decline and delay kidney failure.

Yes and no. A kidney transplant will give you a kidney with normal type IV collagen and filtering membranes. As a result, Alport syndrome will not return in the new kidney.

However, a kidney transplant will not help other symptoms of Alport syndrome, such as hearing loss or eye problems.

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You can’t prevent Alport syndrome, but being aware of your family history can help you catch it early. Being aware can also help you prevent it from being passed on

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