Surfactant Protein B Deficiency (SP-B)

SP-B deficiency is caused by inherited mutations in the surfactant protein-B gene (SFTPB) on chromosome 2, which leads to a partial or complete absence of surfactant protein B. It is an autosomal recessive condition. Infants present shortly after birth with respiratory distress and failure, despite assisted ventilation and surfactant replacement therapy. The diagnosis is made by genetic testing for the mutation in the child and both parents. SP-B deficiency carries a poor prognosis and children with this disorder do not survive beyond the first few months of life. The only effective treatment is lung transplantation.