alpha1- antitrypsin deficiency Flashcards

1
Q

associated with

A
  • liver disease

- pulmonary emphysema (smokers)

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2
Q

what is A1AT

A

glycoprotein

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3
Q

is it a genetic disorder

A

yes

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4
Q

what is A1AT role

A

inhibit proteolytic enyzme., neutrophil elastase

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5
Q

what gene is it located on

A

chromosome 14

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6
Q

what do patients develop

A

cirrhosis

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7
Q

investigation

A

serum alpha 1 antitrypsin

- low

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8
Q

treatment

A
  • liver transplant

- stop smoking

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