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Alpha-1 Antitrypsin Deficiency
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Rare autosomal recessive
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a-1
antitrypsin is synthesized in the liver and released into the blood
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It acts as a proteolytic inhibitor of trypsin, chymotrypsin, elastase,
plasmin, thrombin, kallikrein, proteases, and it neutralizes circulating
proteolytic enzymes
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With
a deficiency of a-1 antitrypsin,
then PMNs and alveolar macrophages sequester
in lungs and release elastase which digests basement membrane
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Early
onset (20-30 years)
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Male:
female ratio of 1:1
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Rapid
and progressive deterioration of lung function
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Severe panacinar emphysema
X-ray
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Basilar
predominance
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Bullae
at both lung bases
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Marked
flattening of the diaphragm
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Redistribution
of blood to the upper lung zones
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Associated
with cirrhosis in
homozygous individuals
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