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Review

Alpha-1 antitrypsin deficiency: a commonly overlooked cause of lung disease

Sarah K. Brode, Simon C. Ling and Kenneth R. Chapman
CMAJ September 04, 2012 184 (12) 1365-1371; DOI: https://doi.org/10.1503/cmaj.111749
Sarah K. Brode
From the Department of Medicine (Brode, Chapman), Division of Respirology, University of Toronto; the Department of Paediatrics (Ling), University of Toronto; the Asthma and Airways Centre (Chapman), University Health Network; and the Division of Gastroenterology, Hepatology & Nutrition (Ling), The Hospital for Sick Children, Toronto, Ont.
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Simon C. Ling
From the Department of Medicine (Brode, Chapman), Division of Respirology, University of Toronto; the Department of Paediatrics (Ling), University of Toronto; the Asthma and Airways Centre (Chapman), University Health Network; and the Division of Gastroenterology, Hepatology & Nutrition (Ling), The Hospital for Sick Children, Toronto, Ont.
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Kenneth R. Chapman
From the Department of Medicine (Brode, Chapman), Division of Respirology, University of Toronto; the Department of Paediatrics (Ling), University of Toronto; the Asthma and Airways Centre (Chapman), University Health Network; and the Division of Gastroenterology, Hepatology & Nutrition (Ling), The Hospital for Sick Children, Toronto, Ont.
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  • For correspondence: kchapman@ca.inter.net
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    Figure 1:

    Typical ranges of serum alpha-1 antitrypsin levels for different genotypes (normal, heterozygous carriers of alpha-1 antitrypsin deficiency and homozygous deficiency). The left axis is expressed in μM because this unit is common in the literature. The right axis shows an approximate conversion into mg/dL because this unit is commonly reported by clinical laboratories and by different measurement technology (nephelometry or radial immunodiffusion). Adapted from Brantly and colleagues17 and the American Thoracic Society/European Respiratory Society statement.9 Note: AAT = alpha-1 antitrypsin.

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Canadian Medical Association Journal: 184 (12)
CMAJ
Vol. 184, Issue 12
4 Sep 2012
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Alpha-1 antitrypsin deficiency: a commonly overlooked cause of lung disease
Sarah K. Brode, Simon C. Ling, Kenneth R. Chapman
CMAJ Sep 2012, 184 (12) 1365-1371; DOI: 10.1503/cmaj.111749

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Alpha-1 antitrypsin deficiency: a commonly overlooked cause of lung disease
Sarah K. Brode, Simon C. Ling, Kenneth R. Chapman
CMAJ Sep 2012, 184 (12) 1365-1371; DOI: 10.1503/cmaj.111749
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    • How does alpha-1 antitrypsin deficiency cause lung and liver disease?
    • What is the usual presentation?
    • Who should be screened?
    • How is alpha-1 antitrypsin deficiency diagnosed?
    • After diagnosis, which tests and monitoring should be performed?
    • What options are available to treat lung disease?
    • What is the role of augmentation therapy?
    • Are there any treatment options for liver disease?
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