Deficiency of Pulmonary Surfactant Protein B in Congenital Alveolar Proteinosis

Surfactant protein B and A concentrations are increased in neonatal pneumonia

“…Based on literature data (9,16,17), we expected to find lower levels of SP-B at the onset of pneumonia and to observe increasing SP-B levels during recovery. Despite the heterogeneity of data, we were instead struck by finding at the onset of pneumonia an excess of SP-B, with respect to PL.…”

The Importance of Surfactant on the Development of Neonatal Pulmonary Diseases

“…SP-B was not detected in the pulmonary tissue of the children with the disease, and SP-B mRNA was not detected by the Northern blot method. 41,42 The authors concluded that this mutation could be responsible for SP-B deficiency and for CAP, and they suggested that the disease could have a higher incidence than that reported by them previously in 1993.…”

“…[34][35][36][37][38][39][40] The inability to produce SP-B is the result of an autosomic recessive disease that leads to a fatal respiratory insufficiency, congenital alveolar proteinosis (CAP), indicating the fundamental role this protein plays in normal pulmonary function. 41 In 1994, Nogee et al 42 demonstrated the existence of a mutation-type frameshift, consisting of the substitution of a nucleotide sequence, GAA, with a single nucleotide, C, on codon 121 of the gene responsible for the production of SP-B. In the index family studied by the authors, 3 term newborn babies developed fatal respiratory insufficiency, while the parents and 3 siblings did not present any respiratory symptoms, suggesting a recessive autosomic inheritance pattern.…”

“…37 The most frequent mutation of SP-B deficiency is 121ins2; its frequency is 1 for each 1000 to 3000 individuals. 41,45 Deficiency in SP-C is associated with severe lung disease in neonates, and most mutations in the SP-C gene are inherited as a dominant gene. Various mutations on the SP-C gene have been described in infants with RDS and severe chronic lung disease, and in nonspecific interstitial pulmonary pneumonitis, interstitial pulmonary fibrosis, and interstitial fibrosis in older individuals.…”

Surfactant protein B gene polymorphism in preterm babies with respiratory distress syndrome

“…SP-B is necessary for the formation of the lungs and of tubular myelin, as well as for the processing of SP-C. The absence of SP-B in animals and humans results in respiratory failure and death shortly after birth (11)(12)(13)(14)(15).…”