Deficiency of Pulmonary Surfactant Protein B in Congenital Alveolar Proteinosis

TLDR

Congenital pulmonary alveolar proteinosis is an uncommon cause of respiratory failure in full-term newborns, resembles older patients histologically but follows a different clinical course, its incidence and cause are unknown, and familial cases suggest an inborn error of surfactant metabolism. The report describes congenital alveolar proteinosis. All.

Abstract

Congenital pulmonary alveolar proteinosis is an uncommon cause of respiratory failure in full-term newborns1–4. Although its histopathological appearance is similar to that of the alveolar proteinosis observed in older children and adults,5 the congenital form of the illness follows a different clinical course. All reported infants with congenital alveolar proteinosis have died within the first year of life despite maximal medical therapy. The incidence and cause of congenital alveolar proteinosis are unknown. Familial cases have been reported, and it has been speculated that the cause is an inborn error of surfactant metabolism4. In this report we describe .  . .