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Pediatr Clin North Am. 2006 Oct;53(5):911-27, ix.

Defects in surfactant synthesis: clinical implications.

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  • 1Division of Newborn Medicine in the Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, One Children's Place, St. Louis, MO 63110, USA. cole@kids.wustl.edu

Abstract

Since the original description of deficiency of the pulmonary surfactant in premature newborn infants by Avery and Mead in 1959, respiratory distress syndrome has most commonly been attributed to developmental immaturity of surfactant production. Studies of different ethnic groups, gender, targeted gene ablation in murine lineages, and recent clinical reports of monogenic causes of neonatal respiratory distress syndrome have demonstrated that genetic defects disrupt pulmonary surfactant metabolism and cause respiratory distress syndrome, especially in term or near-term infants and in older infants, children, and adults. In contrast to developmental causes of respiratory distress, which may improve as infants and children mature, genetic causes result in both acute and chronic (and potentially irreversible) respiratory failure.

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