Alpha-1 antitrypsin deficiency

作者：Mornex J F

来源：Revue Francaise d'Allergologie, 2016, 56(3): 223-224.

DOI：10.1016/j.reval.2016.02.012

• Alpha-1 antitrypsin deficiency
• Pulmonary emphysema
• Cirrhosis
• Protein folding

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.

• 出版日期2016-4
• 单位河北医科大学