Symptoms of alpha-1 antitrypsin deficiency typically involve the lungs and liver.

α-1抗胰蛋白酶缺陷的典型症状累及肺和肝。

Since you need both mutant copies for the disease, this makes alpha-1 antitrypsin deficiency a recessive disease.

由于罹患α-1抗胰蛋白酶缺陷必须有2个突变基因拷贝，α-1抗胰蛋白酶缺乏症是一种隐形遗传病。

The level of alpha-1 antitrypsin in the blood can also be measured.

也可测量血清α-1抗胰蛋白酶水平。

Cirrhosis caused by alpha-1 antitrypsin can be diagnosed with a liver biopsy.

α-1抗胰蛋白酶导致的肝硬化可通过肝穿刺活检诊断。

This test stains glycoproteins like alpha-1 antitrypsin a pink color.

这个检测将如α-1抗胰蛋白酶等糖蛋白染成粉红色。

The gene that encodes alpha-1 antitrypsin protein is called SERPINA1, which stands for serpin peptidase inhibitor, clade A, member 1.

编码α-1抗胰蛋白酶的基因是SERPINA1，代表丝氨酸蛋白酶抑制剂，A系，1成员。

Another effect of unchecked inflammation in alpha-1 antitrypsin deficiency is chronic bronchitis, resulting from increased mucus production and narrowing of the airways.

α-1抗胰蛋白酶缺乏症导致炎症失控的另一个后果是慢性支气管炎，由黏液增多以及气道狭窄导致。

So this antitrypsin protein is a protease inhibitor, and inactivates trypsins, thereby preventing protein breakdown.

而抗胰蛋白酶就是一种蛋白酶抑制剂，通过抑制胰蛋白酶防止蛋白质水解。

So alpha-1 antitrypsin deficiency can lead to both emphysema and chronic bronchitis, the two types of chronic obstructive pulmonary disease, or COPD.

因此α-1抗胰蛋白酶缺乏症可导致肺气肿和慢支，而肺气肿和慢支是慢阻肺（COPD）中的2种类型。

Diagnosis of alpha-1 antitrypsin deficiency often begins with a chest X-ray or Chest CT to look for hyperinflated lungs or evidence of damaged lung tissue.

α-1抗胰蛋白酶缺乏症的诊断常通过X线胸片或胸部CT寻找肺过度膨胀或肺组织受损的证据。

Without alpha-1 antitrypsin, the opposite happens - neutrophil elastase goes unchecked, and it damages the walls of the alveoli, and without that elastin, the alveoli loses its elasticity and structural integrity.

如果没有α-1抗胰蛋白酶，情况就会背道而驰：中性粒细胞弹力蛋白酶不受抑制，将会损伤肺泡壁，没有了那层弹性纤维，肺泡壁便失去弹性和结构完整性。

Misfolded alpha-1 antitrypsin can aggregate and get stuck in the endoplasmic reticulum of the liver hepatocytes where it's made, causing some of those cells to die.

错误折叠的α-1抗胰蛋白酶可聚集并阻塞于肝细胞内质网中，即α-1抗胰蛋白酶产生的地方，导致其中一部分肝细胞死亡。

Supplementing the deficient protein in the blood doesn't fix the liver problems, since they're caused by defective alpha-1 antitrypsin building up in the hepatocytes.

由于肝病变是缺陷α-1抗胰蛋白酶在肝细胞中累积造成的，仅补充血液中缺乏的蛋白质不能解决肝脏问题。

If both copies of the gene were mutant Z copies, then typically there's only 15 - 20% of normal levels, which results in alpha-1 antitrypsin deficiency.

如果两个基因拷贝都是异常的Z型，这样的个体一般只有正常α-1抗胰蛋白酶活性的15-20%，导致α-1抗胰蛋白酶缺陷。

Fortunately, the liver makes alpha-1 antitrypsin which gets released into the blood and sent to the lungs, where it inhibits neutrophil elastase just like it inhibits trypsin, inactivating it before it can break down the protein elastin.

幸运的是，肝产生α-1抗胰蛋白酶，释放入血进肺，在肺中像抑制胰蛋白酶一样，抑制中性粒细胞弹性蛋白酶，使弹性蛋白酶在水解弹性纤维之前失活。

Another, more common cause of COPD is smoking, and if someone with alpha-1 antitrypsin deficiency also smokes, they tend to get an earlier onset of COPD than they have otherwise, an example of a gene-environment interaction.

另外，COPD更常见的病因是吸烟，如果有人患有α-1抗胰蛋白酶缺乏症且同时吸烟，那他们患上COPD的时间会比其他人要早，这就是基因-环境相互作用的一个例子。

The tissue is also exposed to diastase, which is an enzyme that normally destroys alpha-1 antitrypsin, but since alpha-1 antitrypsin's stuck and hidden away in the endoplasmic reticulum, diastase can't get to it and so it's diastase resistant.

该活检组织也被施用淀粉酶；淀粉酶通常用于水解α-1抗胰蛋白酶，但由于α-1抗胰蛋白酶阻塞、隐藏于内质网中，淀粉酶触及不了，因此产生淀粉酶抵抗。

In terms of treatment, augmentation therapy is where you replace alpha-1 antitrypsin in the blood, although this doesn't cure the disease, so other therapies for chronic obstructive pulmonary disease like supplemental oxygen are often needed as well.

治疗方面，增强疗法就是替换血中α-1抗胰蛋白酶，然而治标不治本，因此通常也需要其他像是补氧等针对COPD的治疗方案。

Now, each wild-type, or normal, copy of alpha-1 antitrypsin protein, termed M, contributes 50% of normal A1AT activity, meaning two normal copies gets you 100%, which just means there's a normal amount of A1AT in the blood.

每一个野生型/正常型的α-1抗胰蛋白酶拷贝，记为M，能够提供50%正常的α-1抗胰蛋白酶活性，意味着如果你有2个拷贝，就拥有100%正常的α-1抗胰蛋白酶活性，即血液中α-1抗胰蛋白酶含量正常。