CF and Alpha-1 AT def. Flashcards Preview

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Flashcards in CF and Alpha-1 AT def. Deck (11):

Inheritance pattern of both Cystic Fibrosis and Alpha-1 Antitrypsin Deficiency.

Autosomal Recessive


Why are most males with CF sterile?

CF is linked to a congenital absence of the vas deferens


Most debilitating component of CF.

Lung component
-thick mucous secretions and very high rate of infection


Type of mutation that leads to CF

Deletion of Phenylalanine in position 508 in the CFTR gene


What are the two tests used to screen newborns for CF. (or parents to see if they are carriers)

PCR analysis
ASO hybridization


What type of enzyme is Alpha-1 Antitrypsin?

a.k.a. Alpha-1 antiprotease

Serine protease inhibitor


What is the function of A-1 AT?

Inhibits elastase that is secreted in the lungs preventing degradation of lung tissue.


What are the 3 alleles in the genes that code for A-1 AT?

S-mutant (low functioning protein)
Z-mutant (no function at all)


Complication of ZZ heterozygotes.

Liver Disease


Why do smokers have worse progression of an A-1 AT deficiency?

They both function the same way leading to centrilobular emphysema. The imbalance of protease/antiprotease that is seen in the genetic disease is also a result of cigarette smoking.


What is the Alpha-1 AT Pittsburg variant and a common symptom?

The enzyme loses affinity for elastase and gains affinity for thrombin. The result is increased risk of bleeding.