title: Surfactant protein B deficiency in infants with respiratory failure.
abstract: Surfactant Protein B (SP-B) deficiency has been recently identified as an uncommon, autosomal recessive lung disorder in term infants. This inability to produce SP-B leads to progressive, lethal, hypoxemic respiratory failure in the first year of life. A frameshift mutation (121 ins 2) is the predominant but not exclusive cause. The clue to diagnosis is to have a high suspicion of SP-B deficiency in any term infant with severe respiratory distress without any apparent cause. SP-B deficiency can be diagnosed prenatally or postnatally. The only current treatment options available include lung transplantation or compassionate care. Current developments in gene therapy offer hope for future treatment.
authors.affiliation: Neonatal Intensive Care Unit, Pediatrix Medical Group, Valley Hospital Medical Center, Las Vegas, NV 89106, USA. maryann_wilder@pediatrix.com
authors.forename: Mary Ann
authors.initials: MA
authors.lastname: Wilder
mesh_terms: D003677:Deficiency Diseases / Q000151:congenital* / Q000235:genetics / Q000628:therapy; D003937:Diagnosis, Differential; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D016040:Lung Transplantation; D017283:Neonatal Nursing / Q000592:standards; D037701:Pulmonary Surfactant-Associated Protein B / Q000172:deficiency*; D012127:Respiratory Distress Syndrome, Newborn / Q000473:pathology; D012131:Respiratory Insufficiency / Q000151:congenital* / Q000235:genetics / Q000628:therapy; D012307:Risk Factors; D014481:United States
chemical_list: D037701:Pulmonary Surfactant-Associated Protein B