Article
Relationship between a mild alpha 1 proteinase inhibitor deficiency and respiratory symptoms in a family.
Annals of clinical biochemistry - 1 Nov 1995
Huet-Duvillier G, Balduyck M, Watrigant Y, Sesboue R, Thiebaut C, Lafitte J J, Degand P
Abstract excerpt
A 34-year-old man with pulmonary emphysema was found to have a mild alpha 1 proteinase inhibitor (alpha 1 PI) deficiency. alpha 1 PI status was investigated in this patient and in 35 members of his family. The alpha 1 PI investigations included alpha 1 PI concentration and phenotype and serum inhibitory capacity for trypsin and pancreatic elastase. Fifteen members of the family had alpha 1 PI concentration and...
Topics
- Adult
- Alleles
- Emphysema
- Heterozygote
- Homozygote
- Humans
- Male
- Pedigree
- Phenotype
- Respiratory Tract Diseases
- Smoking
- alpha 1-Antitrypsin
- alpha 1-Antitrypsin Deficiency
