α1-抗胰蛋白酶缺乏症 (AAT缺乏症)
Alpha-1 抗胰蛋白酶 (AAT) 缺乏症是一種遺傳性疾病，可能影響肺病和肝病。AAT 是一種稱為蛋白酶抑製劑的蛋白質。 AAT 是在肝臟中製造的，它可以保護肺和肝臟。若肝臟不能產生足夠的AAT，這種情況會導致慢性阻塞性肺病和肝病（肝硬化）。
由於基因缺陷，改變了AAT分子的結構，阻止AAT自肝細胞釋放，使血清中AAT下降，也造成肺泡內的濃度不足，無法抑制彈性蛋白酶，使肺泡中的蛋白酶過量而破壞肺泡壁，引起肺氣腫。而肝細胞內堆積過多的AAT也會破壞肝細胞，最終引起肝臟疾病。
症狀通常包括呼吸困難和黃疸或黃色皮膚。
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. AAT is a type of protein called a protease inhibitor. AAT is made in the liver and it works to protect the lungs and liver.
Alpha-1 antitrypsin (AAT) deficiency is a condition in which the body does not make enough of AAT, a protein that protects the lungs and liver from damage. The condition can lead to COPD and liver disease (cirrhosis).
The structure of the AAT gene molecule causes the AAT cells to release harmful substances in the blood cells, and also reduces the concentration of the alveoli in the alveoli. Too many cells in the cells can cause liver disease at the same time.
Symptoms often include trouble breathing and jaundiced or yellow skin.