CF and Alpha-1 AT def. Flashcards Preview

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

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

Autosomal Recessive

2

Why are most males with CF sterile?

CF is linked to a congenital absence of the vas deferens

3

Most debilitating component of CF.

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

4

Type of mutation that leads to CF

Deletion of Phenylalanine in position 508 in the CFTR gene

5

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

PCR analysis
ASO hybridization

6

What type of enzyme is Alpha-1 Antitrypsin?

a.k.a. Alpha-1 antiprotease

Serine protease inhibitor

7

What is the function of A-1 AT?

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

8

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

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

9

Complication of ZZ heterozygotes.

Liver Disease

10

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.

11

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.