Abstract
Background: Alpha-1 antitrypsin deficiency (AATD) results from mutations in the SERPINA1 gene and classically presents with early-onset emphysema and liver disease. The most common mutation presenting with clinical evidence is the Z mutation, while the S mutation is associated with a milder plasma deficiency. AATD is an under-diagnosed condition and the World Health Organisation recommends targeted detection programmes for AATD in patients with chronic obstructive pulmonary disease (COPD), non-responsive asthma, cryptogenic liver disease and first degree relatives of known AATD patients.
Original language | English |
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Article number | 91 |
Journal | Respiratory Research |
Volume | 12:91 |
DOIs | |
Publication status | Published - 13 Jul 2011 |
ASJC Scopus subject areas
- Pulmonary and Respiratory Medicine