Abstract
α1 Antitripsin deficiency (AAT) is an orphan respiratory disease. Genetic risk factors of chronic obstructive pulmonary disease (COPD) can cause AAT and primary emphysema of the lungs. AAT genotyping plays the key role for diagnosis. Early detection of AAT deficient phenotypes is crucial for prevention and treatment of COPD and slowing emphysema progression. A case of inherited AAT deficiency in a patient with deficient phenotype PiZZ is described in this article. A diagnostic algorithm for AAT is proposed.
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