Genetic Disorder Research Paper

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Introduction Info
Difference between a disease and an inherited genetic disorder: A genetic disorder is a disease that is caused by an abnormality in an individual’s DNA. Abnormalities can be as small as single-base mutation in just one gene, or they can involve the addition or subtraction of entire chromosomes. (http://learn.genetics.utah.edu/content/disorders/)

An inherited genetic disorder is a medical condition or trait that is related to our genes and can be passed down from parent to child. (http://patients.ambrygen.com/general-genetics/know-the-basics/genetics-101/inherited-vs-genetic)

A disease is an illness or sickness characterized by specific signs and symptoms. (https://www.medicinenet.com/script/main/art.asp?articlekey=3011) …show more content…

(ghr.nlm.nih.gov/condition/polycystic-kidney-disease) …show more content…

(Current Medical Diagnosis). About $2 billion, annually via Medicare and Medicaid alone, is spent on treating PKD. (http://www.foxnews.com/opinion/2015/12/21/why-doubling-nih-budget-would-benefit-all-us.html)

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Signs and symptoms: ADPKD- blood in urine(haematuria), CKD(chronic kidney disease), high blood pressure, abdominal/lower back pain, kidney stones, recurrent urinary tract infections(UTIs). (https://bumppkd.com/en/what-is-pkd/adpkd)
ARPKD- severe breathing difficulties, high blood pressure, CKD, excessive urination and thirst, serious internal bleeding, damage to the liver known as Congenital Hepatic Fibrosis(CHF). (https://bumppkd.com/en/what-is-pkd/arpkd)
Pain in the abdomen, flank, or back area, since the cysts grow, making the kidneys enlarge. (https://www.pkdinfo.com/downloads/PKD-complete-guide.pdf) Heart valve abnormalities.(genetics home reference)

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CBC count from cysts, urinalysis, urine culture, uric acid determination, CT scans,MRI, and ultrasound, which is used to confirm the diagnosis of disorder. (CMDT)

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