Symptoms And Treatment Of Alport Syndrome Essay

Symptoms And Treatment Of Alport Syndrome Essay

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Alport syndrome, also known as hereditary nephritis is a relatively rare inherited renal disease caused by mutations in the type IV collagen chains within the basement membranes of the glomerulus, cochlea, and eyes. If diagnosed with alport syndrome, you will always have kidney problems and sometimes hearing loss. You will most likely have to undergo dialysis and eventually have a kidney transplant. A progressive decline in renal function leads to end-stage renal disease. Hypertension may be detected by early adolescence, but you will most likely experience hematuria in your first decade of life and proteinuria by your second stage of life. There are three types of alport syndrome and they are X-linked, autosomal recessive, and autosomal dominant.
X-linked is the most common and it occurs when there is a mutation in the gene COL4A5. A woman who is a carrier has a 50% chance in each pregnancy of transmitting the mutated gene to a son who will develop AS, or to a daughter who will be a carrier. Autosomal recessive occurs when both parents are carriers and is caused by mutations in both copies of the COL4A3 gene or COL4A4 gene. Each child has a twenty-five percent chance of developing alport syndrome, and a fifty percent chance of being a carrier. Autosomal dominant is the rarest type, and each child has a fifty percent chance of developing the mutated genes. There is limited amount of families with this type and little is actually known about it.
In women, the disease is less severe, however during pregnancy the condition can worsen. Women with Alport’s syndrome can have an accelerated form of the disease during pregnancy with worsening kidney function, hypertension, and they can also develop preeclampsia. The first thing to be d...


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...lonephritis, hearing loss before the age of 30, and end-stage kidney failure.
My conclusions with doing this report on alport syndrome is that I hope more research is done on it. They have done test on mice, but it didn’t generate great results and outstanding knowledge of the disease. I can see why there are only four documented pregnancy cases because I can understand that they would not want to pass the disease on to their children. Most do seem to live a healthy long life, but there are people who do go through dialysis and they are patiently waiting for that desperately needed kidney transplant. I am glad that I don’t know anyone with the disease and have to watch them go through the battle of renal failure. I have to say that I don’t regret picking this project even though it was tough to find information on it because there really is little known about it.

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