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Alpha-1 Antitrypsin Deficiency (AATD)

Alpha-1 Antitrypsin Deficiency (AATD). By Me. History. First case reported in Sweden. Women and men are affected in equal numbers Common in Caucasians and Northern Europeans Name comes from a deficiency of the serum antiprotease , known as AAT

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Alpha-1 Antitrypsin Deficiency (AATD)

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  1. Alpha-1 Antitrypsin Deficiency(AATD) By Me

  2. History • First case reported in Sweden. • Women and men are affected in equal numbers • Common in Caucasians and Northern Europeans • Name comes from a deficiency of the serum antiprotease, known as AAT • Most common cause of liver disease in children

  3. Symptoms • Shortness of breath. • Severe liver disease (cirrhosis) • Weight loss • Wheezing

  4. Inheritance • Genetic defect where Alpha-1 antitrypsin(AAT) also known as a “Protease Inhibitor” is in short supply. • Inherited in an autosomal codominant pattern.

  5. Locus • Occurs in the liver. • Makes defective versions of AAT and causes the proteins in the liver to mishape, polymerize, collect within the liver cell. • Mutations caused in the SERPINA1 gene on chromosome 14

  6. Linkage • There is no linkage to any other genes.

  7. Frequency • Affects about 1 in 1500 to 3500 people with European background. • Children must inherit one abnormal gene from a parent to get the disease.

  8. Effected Groups • Common in European ancestry • Uncommon in Asian heritage

  9. Age of Onset • Between ages 20 and 50. • Can be also seen in children

  10. Prognosis • Some of the people with this will not have liver of lung disease but the emphysema and cirrhosis can be fatal.

  11. Treatments • Replacing AAT protein that is missing. • Inserted through the vein each week. • Smoking is major to avoid • Treatments for emphysema and cirrhosis are used

  12. Recent Progress • The Alpha-1 Project is a foundation towards eliminating the effects and curing the disease.

  13. Famous Cases • Rumored that Micheal Jackson might have had this.

  14. Cites • http://www.spiderspun.net/faqs001.htm • http://health.nytimes.com/health/guides/disease/alpha-1-antitrypsin-deficiency/ • http://ghr.nlm.nih.gov/condition/alpha-1-antitrypsin-deficiency • http://learn.genetics.utah.edu/content/disorders/whataregd/a1ad/ • http://www.thealpha-1project.com/ProgressReports.aspx

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