D) Homozygous for the Z allele at the PI locus
D) Homozygous for the Z allele at the PI locus
DX
Alpha-1-antitrypsin (AAT). AAT deficiency is an inherited genetic abnormality in the AAT protein that impairs its activity in the pulmonary alveoli and causes it to accumulate in hepatocytes.
Px can develop COPD, emphysema and cirrhosis.
Note: there are two genes involve such as S-gene and Z-gene
The S gene is more frequent among individuals of Spanish or Portuguese descent and the Z gene is highest in patients of Northern or Western European descent.
Tx
Replacing enzymes
Ref:http://emedicine.medscape.com/article/295686-overview
D) Homozygous for the Z allele at the PI locus
DX
Alpha-1-antitrypsin (AAT). AAT deficiency is an inherited genetic abnormality in the AAT protein that impairs its activity in the pulmonary alveoli and causes it to accumulate in hepatocytes.
Px can develop COPD, emphysema and cirrhosis.
Note: there are two genes involve such as S-gene and Z-gene
The S gene is more frequent among individuals of Spanish or Portuguese descent and the Z gene is highest in patients of Northern or Western European descent.
Tx
Replacing enzymes
Ref:http://emedicine.medscape.com/article/295686-overview
