Signs Of Too Much Potassium In Humans – Alport syndrome is a condition that affects your kidneys. Mutations in your collagen genes cause Alport syndrome. Symptoms include blood and protein in your pee and hearing and vision loss. It can also cause kidney failure. Treatment often includes ACE inhibitors and ARBs.

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

Signs Of Too Much Potassium In Humans

Signs Of Too Much Potassium In Humans

Type IV collagen consists of three individual collagen chains (alpha chains) that twist together like rope. The chains are alpha 3, alpha 4 and alpha 5. If your body does not produce one of these chains, the other two cannot combine. This leads to the most severe Alport syndrome symptoms.

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If your body produces all the chains but doesn’t fix one, sometimes the chains can’t combine and other times the chains combine but don’t function properly. Alport syndrome symptoms may be milder in these cases.

Type IV collagen is an important protein in the filtration membranes in 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 (pee). The GBM also makes sure that contents like blood cells and proteins stay in your blood instead of going into your pee.

When the GBM is not functioning properly, blood or protein can leak into your pee. Your kidneys’ ability to filter your pee also worsens over time, increasing your risk of complete 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 problems with your sight and hearing as well as kidneys.

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

Signs Of Too Much Potassium In Humans

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. Females 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 on to their male children. Therefore, they cannot pass XLAS to them. However, males pass their X chromosome on to all their female children. As a result, all their female children will have Alport syndrome.

Females pass on one of their X chromosomes to their child of any assigned 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 the 23 pairs of autosomal genes. Autosomal recessive is a pattern of inheritance. If a parent has an autosomal recessive trait, they will not show any symptoms. To pass it on to their children, both parents must carry the trait. However, because they have no symptoms, they often don’t even know they have it. Both parents must pass on an altered gene to their child in order for the child to inherit the genetic condition or trait in an autosomal recessive pattern. One quarter of children will get an autosomal recessive trait if both parents have it. Only changes that occur in the DNA of the sperm or egg can be passed from parents to children.

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In ARAS, there is a mutation on both genes on chromosome 2, which encode the alpha 3 or alpha 4 proteins. ARAS is not dependent on the assigned gender of a person, so the inheritance and severity of ARAS is the same in everyone.

If you have ARAS, there is 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 of passing both abnormal genes to your biological children. If this happens, your child will have ARAS.

“Dominant” refers to a disease that requires a mutation on only one of the genes in a pair to develop a disease. In ADAS, there is a mutation on one of the genes in chromosome 2 that causes the

Signs Of Too Much Potassium In Humans

ADAS is not dependent on a person’s assigned sex, so the inheritance and severity of ARAS is the same in everyone.

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

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 when 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 the incidence at 1 in every 50,000 live births. However, as researchers continue to study Alport syndrome, they are identifying more people with milder forms of the condition. As a result, Alport syndrome may be more common than currently available data suggests.

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

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Over time, as more protein leaks into your pee and as your GBMs thicken, scar tissue can develop (fibrosis). As a result, your kidneys’ ability to clean your blood begins to decline (chronic kidney disease). As more scar tissue develops, your kidney function gets worse until your kidneys eventually stop working (kidney failure).

The first sign of Alport syndrome is microscopic hematuria. Microscopic hematuria occurs because your abnormal GBMs leak red blood cells into your pee. You can’t see the blood cells with your naked eye – you can only see them under a microscope. Males who have XLAS and anyone who has ARAS will have microscopic hematuria at birth. Most females who have XLAS will develop microscopic hematuria over time. Not everyone with ADAS will develop microscopic hematuria.

As your kidney function begins to decline, chronic kidney disease (CKD) develops. Most people do not have CKD symptoms until they reach kidney failure.

Signs Of Too Much Potassium In Humans

Hearing loss is more common in men who have XLAS and people with ARAS. However, it can occur in anyone with Alport syndrome. Hearing loss is usually gradual. Many people don’t realize they have hearing loss until it gets worse. Most people have trouble hearing higher sounds, although some people may end up hearing no sounds at all. You may eventually need hearing aids. In severe cases, total hearing loss (deafness) occurs.

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You can develop a wide range of problems with your eyes. Some people are more prone to scratching the surface of their eyes (corneal abrasion), which can take a long time to heal. Corneal abrasions can make your eyes watery and hurt, but they usually don’t lead to vision loss. Some people also develop problems with the clear part of their eye that helps focus their vision (the lens), which can eventually lead to cataracts.

If you have Alport syndrome and develop problems with your hearing or vision, talk to a healthcare provider right away.

Alport syndrome is an inherited 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, a healthcare provider may raise Alport syndrome as a concern. If you have a biological family history of Alport syndrome, screenings can help diagnose it. If no one in your family has Alport syndrome, a provider can diagnose you based on your history and additional tests.

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A healthcare provider will examine 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 therapies that correct the abnormal genes, but have not yet been successful. If they can develop a successful gene therapy, it will not 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 filter membranes. As a result, Alport syndrome will not recur in the new kidney.

Signs Of Too Much Potassium In Humans

However, a kidney transplant will not help with other Alport syndrome symptoms, such as hearing loss or problems with your eyes.

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

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