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【Alpha-1 抗胰蛋白酶 (AAT) 缺乏症 Alpha-1 Antitrypsin Deficiency】

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)。


在新生兒中,Alpha-1 的典型症狀是黃疸、腹部腫脹和餵養不良。 Alpha-1 也可能出現在兒童晚期或成年期,並因疲勞、食慾不佳、腹部和腿部腫脹或肝臟檢查異常而被發現。


  • 呼吸困難
  • 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.

In newborns, the typical symptoms of Alpha-1 are jaundice, swelling of the abdomen, and poor feeding. Alpha-1 may also appear in late childhood or adulthood and be detected because of fatigue, poor appetite, swelling of the abdomen and legs or abnormal liver tests.


  • Trouble breathing
  • Jaundiced or yellow skin
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