Surfactant protein B deficiency in infants with respiratory failure.
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.
Wilder
Mary Ann
MA
Neonatal Intensive Care Unit, Pediatrix Medical Group, Valley Hospital Medical Center, Las Vegas, NV 89106, USA. maryann_wilder@pediatrix.com
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
D037701:Pulmonary Surfactant-Associated Protein B