64. a1-antitrypsin deficiency Flashcards Preview

Gastrointestinal > 64. a1-antitrypsin deficiency > Flashcards

Flashcards in 64. a1-antitrypsin deficiency Deck (5)
1

causes

1. misfolded gene product protein aggregates in hepatocellular ER --> Cirrhosis with PAS+ globules in liver
2. lungs --> low α1-antithrypsin --> unihibited elasrase in alveoli --> low elastic tissue --> panacinar emphysema
( CONDOMINANT TRAIT)

2

characteristic of gene

condominant trait

3

• In your patient with prolonged expiratory time, what type of emphysema is more consistent with α1-antitrypsin deficiency than with COPD?

Panacinar emphysema caused by breakdown of elastic fibers of the lungs (as opposed to centriacinar [centrilobular] emphysema in COPD)

4

• α1-antitrypsin deficiency can be diagnosed histologically by seeing what in liver biopsy samples?

PAS-positive globules

5

• A patient has panacinar emphysema and a liver tumor. He has a certain protein deficiency. What is the pattern of inheritance of this trait?

Codominant (this patient has α1-antitrypsin deficiency, which is a codominant trait)

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