ARPKD Research Paper

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In ARPKD, the chances of passing down the disorder is 25% if both parents are carriers for the disorder. If only one parent has the disorder it is impossible for the child to have it because it is recessive. However the child can be a carrier and pass the mutated gene down to the next generation. If you are both homozygous for the trait then the chances that you will pass on the trait is 100%. If you and your spouse both don’t have the trait at all then the chances of passing down the trait is 0%. (Used a Punnet Square) ADPKD is diagnosed using imaging and genetic tests. In image testing, they can use an ultrasound, CT scan, and a MRI. The purpose is to try to see if there are any cysts in the kidney and to see if the kidney had grown to an abnormal size. If they see any of these things, they can confidently diagnose you with PKD.…show more content…
This way they can see if the kidney is an abnormal size, if the kidney is scarred, or if there are any cysts (it’s rare to see cysts). By using ultrasound imaging, they can even diagnose fetuses with ARPKD. ADPKD is most commonly diagnosed from the ages 30-50. Because of this, ADPKD is sometimes called adult PKD. Though it isn’t diagnosed until the age 30-50, the formation of cysts can start at a really young age. Due to this, many people have symptoms of PKD at a young age but don’t seem to be heavily affected by it until it’s too
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