Ch. 393

Question 1

homozygous deficiency of α1-antitrypsin (α1-AT) is an important cause of ___ in children

Answer 1

Liver disease

Question 2

Mode of inheritance of alpha 1 antitrypsin deficiency

Answer 2

Autosomal recessive

Question 3

T/F Asians have little to no risk for α1-AT deficiency

Answer 3

T

Question 4

Emphysema: Most patients who have the ___ defect have little or no detectable pulmonary disease during childhood

Answer 4

PiZZ

Question 5

Smoking greatly increases the risk of emphysema in patients with ___ type

Answer 5

mutant Pi types

Question 6

T/F PE of children with emphysema usually is normal

Answer 6

T

Question 7

T/F Emphysema: Lung function testing is usually normal in children

Answer 7

T

Question 8

Therapy for alpha 1 AT deficiency

Answer 8

IV replacement of enzyme derived from pooled HUMAN plasma

Question 9

Alpha 1 AT deficiency: Target level for augmentation therapy is usually achieved with doses of ___

Answer 9

60 mg/kg IV weekly

Question 10

Emphysema: Augmentation therapy is not indicated for persons with the ___ who have pulmonary disease, because their disease is not from enzyme deficiency.

Answer 10

PiMZ type