Genetic disorders of neonatal respiratory function

Genetic risk for respiratory distress in infancy has been recognized with i ncreasing frequency in neonatal intensive care units. Reports of family clu sters of affected infants and of ethnic- and gender-based respiratory pheno types point to the contribution of inheritance. Similarly, different outcom es among gestationally matched infants with comparable exposures to oxygen, mechanical ventilation, or nutritional deficiency also suggest a genetic r isk for respiratory distress. Examples of inherited deficiency of surfactan t protein B in both humans and genetically engineered murine lineages illus trate 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 availabili ty of clinically useful genetic markers of risk for respiratory distress in infancy will permit development of rational strategies for treatment of ge netic lung disorders of infancy and more accurate counseling of families wh ose infants are at genetic risk for development of respiratory distress at birth or during early childhood. We review examples of genetic variations k nown to be associated with or cause respiratory distress in infancy.