alpha 1 antitrypsin deficiency aatd n.
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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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Presentation Transcript
history
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
symptoms
Symptoms
  • Shortness of breath.
  • Severe liver disease (cirrhosis)
  • Weight loss
  • Wheezing
inheritance
Inheritance
  • Genetic defect where Alpha-1 antitrypsin(AAT) also known as a “Protease Inhibitor” is in short supply.
  • Inherited in an autosomal codominant pattern.
locus
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
linkage
Linkage
  • There is no linkage to any other genes.
frequency
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.
effected groups
Effected Groups
  • Common in European ancestry
  • Uncommon in Asian heritage
age of onset
Age of Onset
  • Between ages 20 and 50.
  • Can be also seen in children
prognosis
Prognosis
  • Some of the people with this will not have liver of lung disease but the emphysema and cirrhosis can be fatal.
treatments
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
recent progress
Recent Progress
  • The Alpha-1 Project is a foundation towards eliminating the effects and curing the disease.
famous cases
Famous Cases
  • Rumored that Micheal Jackson might have had this.
cites
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