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Dysplasia: a review

Géza Bokodi1, András Treszl, Lajos Kovács

  • 1Ist Department of Pediatrics, Semmelweis University, Budapest, Hungary. bokodi@gyer1.sote.hu

Pediatric Pulmonology
|August 30, 2007
PubMed

Insights

Genetic variations influence susceptibility to bronchopulmonary dysplasia (BPD) in preterm infants. Identifying these genetic polymorphisms may help predict BPD risk and long-term outcomes.

Area of Science:

  • Neonatal Medicine
  • Genetics
  • Pulmonology

Background:

  • Bronchopulmonary dysplasia (BPD) is a frequent complication in very low birth weight preterm infants, leading to significant long-term disability.
  • While prematurity and mechanical ventilation are key risk factors, individual genetic susceptibility to BPD is increasingly recognized.

Purpose of the Study:

  • To comprehensively review the role of genetic polymorphisms in the development of BPD and its associated risk factors.
  • To explore how genetic variants influence susceptibility to BPD and related perinatal conditions.

Main Methods:

  • Review of existing studies investigating the association between genetic polymorphisms and BPD risk.
  • Analysis of genetic variants in cytokines, adhesion molecules, renin-angiotensin system, antioxidant enzymes, and surfactant proteins.
  • Examination of genotype associations with BPD risk factors like prematurity, fetal inflammatory response syndrome, and intrauterine lung development.

Main Results:

  • Specific genetic variants in cytokines (e.g., IFNgamma T+874A), adhesion molecules, renin-angiotensin system (ACE-I/D), antioxidant enzymes (GST-P1 Val105Ile), and surfactant proteins (SPA1, SPB) are linked to increased BPD risk.
  • Genetic factors also influence susceptibility to prematurity and fetal inflammatory response syndrome, major determinants of BPD.
  • Genetic variations may impact intrauterine lung development and vascularization, contributing to BPD pathogenesis.

Conclusions:

  • Genetic polymorphisms play a significant role in an infant's susceptibility to BPD.
  • Identifying these genetic variants can aid in predicting which infants are at higher risk for BPD.
  • This genetic insight may inform targeted interventions and improve outcomes for preterm infants.

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