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CR - COPD + A1AT deficiency (iii) (Inherited COPD (A1AT deficiency) (other…
CR - COPD + A1AT deficiency (iii)
complications
resp failure
PaO2 < 8
type 1: PaCO2 < 6
type 2: PaCO2 > 6
cor pulmonale
recurrent chest infections
death
Inherited COPD (A1AT deficiency)
normal alleles = MM
most severe = ZZ
other genetic polymorphisms also suspected
TNF
microsomal epoxide hydrolase
glutathione-S-transferase
MMP12
IL4RA
A1AT made in liver
trait without disease = MZ
codom expression
deficiency: uninhibited elastase released from neutrophils
Z A1AT produced + polymerises in lung - acts as a neutrophil chemoattractant
Tx: A1AT IV infusion