医学
肝移植
抗胰蛋白酶-1缺乏症
肝病
慢性阻塞性肺病
疾病
免疫学
遗传性疾病
肺
慢性肝病
内科学
胃肠病学
病理
移植
肝硬化
作者
Catherine M. Greene,Stefan J. Marciniak,Jeffrey Teckman,Ilaria Ferrarotti,Mark Brantly,David A. Lomas,James K. Stoller,Noel G. McElvaney
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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