Niggemann B, Albani M
Universitätskinderklinik Hamburg-Eppendorf.
Klin Padiatr. 1989 Sep-Oct;201(5):412-5. doi: 10.1055/s-2008-1026739.
We report on a family of an 8-year-old boy who suffers from bronchial asthma. In a routine screening for Alpha-1-antitrypsin-deficiency we discovered a homozygote PiZZ-type which is asymptomatic with regard to complications of the liver or a lung-emphysema. Two other members of the family show the same coincidence of bronchial asthma and Alpha-1-antitrypsin-deficiency, while two further members of the family with a heterozygote PiMZ-type are free of symptoms of the lower airways. Possible relations are discussed.
我们报告了一个患有支气管哮喘的8岁男孩的家庭。在对α-1抗胰蛋白酶缺乏症的常规筛查中,我们发现了一种纯合子PiZZ型,其在肝脏并发症或肺气肿方面无症状。该家庭的另外两名成员也表现出支气管哮喘与α-1抗胰蛋白酶缺乏症的相同巧合情况,而另外两名具有杂合子PiMZ型的家庭成员没有下呼吸道症状。文中讨论了可能的关系。