PATHOPHYSIOLOGY AND TREATMENT OF SURFACTANT PROTEIN-B DEFICIENCY

Surfactant protein B (SP-B) deficiency is an inherited disease of full -term newborn infants which leads to lethal respiratory failure within the first year of life. Genetic analysis of affected infants has perm itted identification of a mutation in the SP-B gene found in several u nrelated kindreds which disrupts pulmonary surfactant composition and function. Lung transplantation has resulted in reconstitution of pulmo nary surfactant function and long-term survival. SP-B deficiency repre sents the first opportunity to link physiologic characteristics of res piratory failure in infancy with specific molecular and cellular defec ts. This linkage will facilitate development of novel strategies for t he treatment of neonatal respiratory diseases.