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Nat Rev Dis Primers. 2016 Jul 28;2:16051. doi: 10.1038/nrdp.2016.51.

α1-Antitrypsin deficiency.

Author information

1
Department of Medicine, Royal College of Surgeons in Ireland Education and Research Centre, Beaumont Hospital, Dublin 9, Ireland.
2
Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
3
Department of Pediatrics, Saint Louis University, St Louis, Missouri, USA.
4
Department of Internal Medicine and Therapeutics Pneumology Unit, University of Pavia, Pavia, Italy.
5
Division of Pulmonary, Critical Care and Sleep Medicine, University of Florida College of Medicine, Gainesville, Florida, USA.
6
UCL Respiratory, Division of Medicine, University College London, London, UK.
7
Education Institute and Respiratory Institute, Cleveland Clinic, Cleveland, Ohio, USA.

Erratum in

Abstract

α1-Antitrypsin deficiency (A1ATD) is an inherited disorder caused by mutations in SERPINA1, leading to liver and lung disease. It is not a rare disorder but frequently goes underdiagnosed or misdiagnosed as asthma, chronic obstructive pulmonary disease (COPD) or cryptogenic liver disease. The most frequent disease-associated mutations include the S allele and the Z allele of SERPINA1, which lead to the accumulation of misfolded α1-antitrypsin in hepatocytes, endoplasmic reticulum stress, low circulating levels of α1-antitrypsin and liver disease. Currently, there is no cure for severe liver disease and the only management option is liver transplantation when liver failure is life-threatening. A1ATD-associated lung disease predominately occurs in adults and is caused principally by inadequate protease inhibition. Treatment of A1ATD-associated lung disease includes standard therapies that are also used for the treatment of COPD, in addition to the use of augmentation therapy (that is, infusions of human plasma-derived, purified α1-antitrypsin). New therapies that target the misfolded α1-antitrypsin or attempt to correct the underlying genetic mutation are currently under development.

PMID:
27465791
DOI:
10.1038/nrdp.2016.51
[Indexed for MEDLINE]

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