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Genetic disorders of neonatal respiratory function
F S Cole1, A Hamvas, L M Nogee
1Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, and St. Louis Children's Hospital, St. Louis, Missouri 63110, U.S.A. cole@kids.wustl.edu
Insights
Genetic factors increasingly contribute to infant respiratory distress, impacting neonatal intensive care units. Identifying genetic markers aids in understanding and treating these critical lung conditions.
Area of Science:
- Genetics
- Neonatology
- Pulmonology
Background:
- Genetic risk for respiratory distress in infancy is increasingly recognized.
- Family clusters and ethnic/gender variations suggest an inherited component.
- Genetic causes lead to acute and chronic respiratory failure, unlike other causes.
Purpose of the Study:
- To review genetic variations associated with infant respiratory distress.
- To highlight the importance of identifying genetic risk markers.
- To inform treatment strategies and family counseling for genetic lung disorders.
Main Methods:
- Review of existing literature on genetic causes of respiratory distress in infancy.
- Analysis of reported family clusters and ethnic/gender-based respiratory phenotypes.
- Examination of genetic variations linked to surfactant protein deficiencies.
Main Results:
- Genetic factors play a significant role in infant respiratory distress.
- Inherited conditions like surfactant protein B deficiency exemplify genetic risk.
- Genetic causes can result in irreversible respiratory failure.
Conclusions:
- Identifying genetic risk markers is crucial for managing infant respiratory distress.
- Genetic insights enable targeted treatments and improved family counseling.
- Understanding genetic contributions is vital for addressing neonatal lung disorders.
Abstract:
Genetic risk for respiratory distress in infancy has been recognized with increasing frequency in neonatal intensive care units. Reports of family clusters of affected infants and of ethnic- and gender-based respiratory phenotypes point to the contribution of inheritance. Similarly, different outcomes among gestationally matched infants with comparable exposures to oxygen, mechanical ventilation, or nutritional deficiency also suggest a genetic risk for respiratory distress. Examples of inherited deficiency of surfactant protein B in both humans and genetically engineered murine lineages illustrate the importance of identifying markers of genetic risk. In contrast to developmental, inflammatory, or nutritional causes of respiratory distress that may resolve as infants mature, genetic causes result in both acute and chronic (and potentially irreversible) respiratory failure. The availability of clinically useful genetic markers of risk for respiratory distress in infancy will permit development of rational strategies for treatment of genetic lung disorders of infancy and more accurate counseling of families whose infants are at genetic risk for development of respiratory distress at birth or during early childhood. We review examples of genetic variations known to be associated with or cause respiratory distress in infancy.