EMPHYSEMA OF EARLY ONSET ASSOCIATED WITH A COMPLETE DEFICIENCY OF ALPHA-1-ANTITRYPSIN (NULL HOMOZYGOTES)
EMPHYSEMA OF EARLY ONSET ASSOCIATED WITH A COMPLETE DEFICIENCY OF ALPHA-1-ANTITRYPSIN (NULL HOMOZYGOTES)
复制标题
DOI：
10.1164/ajrccm/137.2.371
复制
发表时间：
1988-02-01
期刊：
影响因子：
--
通讯作者：
LEVISON, H
中科院分区：
文献类型：
--
作者：
COX, DW;LEVISON, H
我们比较了3名α1-抗胰蛋白酶(α1-蛋白水解酶抑制剂)(缺失纯合子)受试者和典型缺乏症受试者Pi ZZ的肺功能。我们确定了一名31岁的女性，表现为严重的阻塞性肺疾病，她的血浆中没有检测到α1-抗胰蛋白酶，这表明α1-抗胰蛋白酶的“零”(或Pl*QO)等位基因纯合。她的两个姐妹也有类似的缺陷，其中一个在17岁时出现症状。由于可能存在许多不同的Pl*QO等位基因，该家族中的类型被命名为Null Mattawa(QOmattawa)。在7年的随访期中，所有3个纯合子患者都表现出明显的肺功能恶化。相比之下，6名患有α1-抗胰蛋白酶缺乏症的年龄匹配的不吸烟受试者的肺功能测试显示，Pl ZZ型患者没有肺功能异常。与完全缺乏状态相比，与Pl*Z等位基因相关的正常血浆α1-抗胰蛋白酶浓度的15%至20%似乎对肺提供了一些保护。
We have compared lung function in 3 subjects with no .alpha.1-antitrypsin (.alpha.1-protease inhibitor) (null homozygotes) with subjects having the typical deficiency, PI ZZ. We identified a 31-yr-old woman, presenting with severe obstructive lung disease, who had no detectable plasma .alpha.1-antitrypsin, indicating homozygosity for a "null" (or Pl*QO) allele of .alpha.1-antitrypsin. Two of her sisters have a similar deficiency, one with an onset of symptoms at 17 yr of age. Because of the likelihood that there are a number of different Pl*QO alleles, the type in this family has been named null Mattawa(QOmattawa). All 3 homozygotes have shown a marked deterioration of lung function over a 7-yr period of follow-up. In contrast, lung function tests of 6 age-matched nonsmoking subjects with .alpha.1-antitrypsin deficiency, Pl type ZZ, showed no abnormalities of lung function. The 15 to 20% of the normal plasma concentration of .alpha.1-antitrypsin associated with the Pl*Z allele appears to provide some protection to the lung in comparison with a complete deficiency state.