[Bronchial asthma and homozygous alpha-1-antitrypsin deficiency (PiZZ) in 3 members of a family]

Abstract

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.