Relationship between a Mild α1 Proteinase Inhibitor Deficiency and Respiratory Symptoms in a Family
| العنوان: | Relationship between a Mild α1 Proteinase Inhibitor Deficiency and Respiratory Symptoms in a Family |
|---|---|
| المؤلفون: | Jean Jacques Lafitte, Yves Watrigant, Carole Thiebaut, Pierre Degand, Richard Sesboüé, Malika Balduyck, Guillemette Huet-Duvillier |
| المصدر: | Annals of Clinical Biochemistry: International Journal of Laboratory Medicine. 32:545-549 |
| بيانات النشر: | SAGE Publications, 1995. |
| سنة النشر: | 1995 |
| مصطلحات موضوعية: | Adult, Male, Heterozygote, 030213 general clinical medicine, medicine.medical_specialty, Respiratory Tract Diseases, Clinical Biochemistry, Alpha (ethology), 030209 endocrinology & metabolism, Biology, 03 medical and health sciences, 0302 clinical medicine, alpha 1-Antitrypsin Deficiency, Internal medicine, medicine, Pi, Humans, Allele, Pancreatic elastase, Alleles, Emphysema, Homozygote, Smoking, Respiratory disease, Elastase, General Medicine, medicine.disease, Trypsin, Pedigree, Phenotype, Endocrinology, Enzyme inhibitor, alpha 1-Antitrypsin, biology.protein, medicine.drug |
| الوصف: | A 34-year-old man with pulmonary emphysema was found to have a mild α1 proteinase inhibitor (α1 PI) deficiency. α1 PI status was investigated in this patient and in 35 members of his family. The α1 PI investigations included α1 PI concentration and phenotype and serum inhibitory capacity for trypsin and pancreatic elastase. Fifteen members of the family had α1 PI concentration and inhibitory capacities below the lower normal limit. Five of these members were characterized by the heterozygous MP phenotype and the 10 others by an apparently homozygous M phenotype, in which the M allele may be associated with another unidentified deficiency allele. Two members of the family had α1 PI concentration and elastase inhibitory capacity below the lower normal limits and trypsin inhibitory capacity within the normal range. They were both characterized by the MP phenotype. Six of these 17 members (three of PI type M and three of PI type MP) showed chronic pulmonary symptoms, whereas among the 19 α1 PI non deficient members, no member had a history of significant pulmonary symptoms. |
| تدمد: | 1758-1001 0004-5632 |
| DOI: | 10.1177/000456329503200605 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca20da8d07fd484bc49d0b977d2e1992 https://doi.org/10.1177/000456329503200605 |
| Rights: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....ca20da8d07fd484bc49d0b977d2e1992 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17581001 00045632 |
|---|---|
| DOI: | 10.1177/000456329503200605 |