[Bronchial asthma and homozygous alpha-1-antitrypsin deficiency (PiZZ) in 3 members of a family].
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.
Niggemann
B
B
Universitätskinderklinik Hamburg-Eppendorf.
Albani
M
M
D001249:Asthma / Q000235:genetics*; D002648:Child; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin
Asthma bronchiale und homozygoter Alpha-1-Antitrypsinmangel (PiZZ) bei drei Mitgliedern einer Familie.