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Down Syndrome & Polycystic Kidney Disease

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on 22 December 2014

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Transcript of Down Syndrome & Polycystic Kidney Disease

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Down Syndrome
Down Syndrome
Polycystic Kidney Disease
What is it like to have it?
Additional Info./Facts
How is it diagnosed?
$1.25
Monday, November 03, 2014
Vol XCIII, No. 311
Down Syndrome
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Polycystic Kidney Disease
What causes it?
Down Syndrome & Polycystic Kidney Disease
What is Down Syndrome?
How is it inherited?
How is it treated?
How is it diagnosed?

How is it treated?
What is it like to have it?
Additional Info./Facts
What is Polycystic Kidney Disease?
How is it inherited?
What causes it?
Down Syndrome is a condition where a person is born with an extra chromosome; chromosome 21 to be exact. People born with DS tend to suffer mental retardation, and upward slanting of the eyes, a flattened facial profile, and many more symptoms. It is caused by faulty gamete cell division and is sometimes passed onto the descendants of people with DS. As of now, there is no cure for DS.
With DS, the person is born with an excess of chromosome 21. This extra chromosome causes the physical characteristics and mental retardation often associated with DS. The abnormal number of chromosomes is caused by an abnormal reproduction of the gamete cells. Then when the faulty gamete cell reproduces with a normal gamete cell, the fetus created as a result will also have an abnormal count of chromosomes.
Translocated DS is the only form of DS that can be passed onto future generations. Translocation is where part of one chromosome breaks off and attaches to another chromosome. A mother is a carrier for DS only has a 12% chance of passing on DS to her children. A father who is also a carrier for DS only has a 3% chance of passing on DS. Scientists her unsure as to why there is such a big difference between the percentages.
Most of the time, doctor can "guess" whether or not a child has DS based on the physical appearance of the child at birth. When DS is suspected, a genetic test is done to see whether or not the child as the extra chromosome. The result would show either a translocated chromosome or an extra chromosome.
Polycystic Kidney Disease
There is no cure for Down Syndrome. There is no medicine for DS either, but due to all the conditions involved with DS we need medicine for it immediately. some conditions involved with DS are heart defects and development delays.
Polycystic Kidney Disease occurs when cyst forms in the affected persons kidneys. This causes the kidneys to become enlarged.
Polycystic Kidney Disease is caused by a mutation in one of the genes (PKD1 or PKD2). This causes the cells to stop forming correct kidney structure and start forming cyst.
If it is dominant then it is passed down from the dominant carrier. They child will inherit it because only one dominant trait is needed. If it is recessive then the child may become a carrier unless the parents both have PKD genes.
Doctors use an ultra sound device to determine if there is cyst build up in the kidneys. The doctors can also use genetic tests but those are super expensive.
There is no treatment for PKD. But if the kidneys do fail there are only two options: kidney dialysis or kidney transplant. Kidney dialysis is an artificial process where a machine performs the function of a kidney for you.
More than 600,000 Americans and 12.5 million newborn battle with Polycystic Kidney Disease every day.

Two Hereditary Forms:
Autosomal Dominant Polycystic Kidney Disease, which is the more common genetic disease, it affects 1 in 500 worldwide. Parents with dominant form of PKD are 50% of passing it down to their children.

Autosomal Recessive Polycystic Kidney Disease: It is relativity rare and about 1 to 20,000 babies diagnosed with PKD die within the first month of life. Parents with recessive form of PKD have a 25% chance of passing it down to their children.
Every 691 babies in United States had Down Syndrome.

More than 400,000 people live with Down Syndrome.

Down Syndrome people have increasing risk for medical condition such as heart defects, respiratory and hearing problems, etc. But conditions are treatable so mostly people live a health lifestyle.

Most people with Down Syndrome usually finish their high school year and pursue higher education but is rare.
Having DS doesn't really stop you from living life. Some DS people live a normal life by having a job or a dating relationship. They still can pursue a future in education or have a family. They may go to group homes talking about how they feel. As a parent, you shouldn't be ashamed to tell others about your children, they are still humans that should be treated the same as a "normal". At school they may be separate from a class but are giving the same rights.

Polycystic Kidney Disease cause you to have to watch and balance the things you eat.

Lifestyle changes and medical treatments may help reduce damage to your kidneys from complications, such as high blood pressure.

Finding support can be very hard but there are awareness groups who help to create awareness about this disease.



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