Allotypes of alpha 1-antitrypsin in patients with cystic fibrosis, homozygous and heterozygous for deltaF508

Pediatr Pulmonol. 1994 Jul;18(1):3-7. doi: 10.1002/ppul.1950180104.

Abstract

In cystic fibrosis (CF) neutrophil released serine proteinase activity may facilitate Pseudomonas aeruginosa lung colonization, leading to chronic infection. Since such activity is mostly controlled by alpha 1-antitrypsin (alpha 1-AT), we postulated that with CF carrying deficient alpha 1-AT variants might be at higher risk for P. aeruginosa acquisition and might reveal other phenomena, specific for serine proteinase activity. In 215 Danish patients with CF, homozygous (80%) or heterozygous (20%) for the major CF mutation deltaF508, alpha 1-AT variants were determined. Carriage of deficient alpha 1-AT variants was correlated to an earlier onset of P. aeruginosa lung infection (P < 0.0001), higher total IgG (P < 0.0001), and P. aeruginosa-specific serum antibodies (P < 0.0001). The two groups did not differ in lung function, probably due to intensive antimicrobial treatment.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Child
  • Child, Preschool
  • Chronic Disease
  • Cystic Fibrosis / complications
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / immunology
  • Heterozygote
  • Homozygote
  • Humans
  • Immunoglobulin G / blood
  • Mutation*
  • Pneumonia, Bacterial / etiology
  • Pneumonia, Bacterial / immunology
  • Pseudomonas Infections / etiology
  • Pseudomonas Infections / immunology
  • Retrospective Studies
  • alpha 1-Antitrypsin / genetics*
  • alpha 1-Antitrypsin Deficiency

Substances

  • Immunoglobulin G
  • alpha 1-Antitrypsin