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Pediatrics Genetic and genetic disorders 521da267

Alpha -1 antitrypsin deficiency presents as ?

A
Emphysema
B
Bronchitectasis
C
Empyema
D
Bronchogenic carcinoma
High-Yield Explanation
Alpha-1 antitrypsin deficiency-associated lung disease is characterized by progressive degenerative and destructive changes in the lungs (emphysema, commonly of the panacinar type). Emphysema is a chronic, usually slowly progressive illness, which most commonly causes shoness of breath. Other symptoms may include chronic cough, phlegm production, and wheezing. Emphysema is caused due to alpha 1 antitrypsin deficiency. Reference: GHAI Essential pediatrics, 8th edition

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