α1-Antitrypsin deficiency

被引：0
作者：
Catherine M. Greene
Stefan J. Marciniak
Jeffrey Teckman
Ilaria Ferrarotti
Mark L. Brantly
David A. Lomas
James K. Stoller
Noel G. McElvaney
机构：
[1] Royal College of Surgeons in Ireland Education and Research Centre,Department of Medicine
[2] Beaumont Hospital,Department of Pediatrics
[3] Cambridge Institute for Medical Research,Department of Internal Medicine and Therapeutics Pneumology Unit
[4] University of Cambridge,Division of Pulmonary
[5] Saint Louis University,Division of Medicine
[6] University of Pavia,undefined
[7] Critical Care and Sleep Medicine,undefined
[8] University of Florida College of Medicine,undefined
[9] UCL Respiratory,undefined
[10] University College London,undefined
[11] Education Institute and Respiratory Institute,undefined
[12] Cleveland Clinic,undefined
来源：
Nature Reviews Disease Primers | / 2卷
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摘要：
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.
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