Flashcards in 64. a1-antitrypsin deficiency Deck (5)
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)
characteristic of gene
• 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)
• α1-antitrypsin deficiency can be diagnosed histologically by seeing what in liver biopsy samples?