期刊
NATURE REVIEWS DISEASE PRIMERS
卷 2, 期 -, 页码 -出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nrdp.2016.51
关键词
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资金
- Health Research Board
- Science Foundation Ireland
- Irish Research Council
- National Children's Research Centre
- European Respiratory Society
- Horizon
- Cystic Fibrosis Foundation Therapeutics
- Alpha One Foundation USA
- Medical Research Council [G0901786, G1002610, G0601840, MR/N024842/1] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0513-10070] Funding Source: researchfish
- MRC [G1002610, G0601840, MR/N024842/1, G0901786] Funding Source: UKRI
alpha 1-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 alpha 1-antitrypsin in hepatocytes, endoplasmic reticulum stress, low circulating levels of alpha 1-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 alpha 1-antitrypsin). New therapies that target the misfolded alpha 1-antitrypsin or attempt to correct the underlying genetic mutation are currently under development.
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